diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md
index 98373169..dfa6503d 100644
--- a/docs/metrics/doid.md
+++ b/docs/metrics/doid.md
@@ -2,16 +2,16 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/doid.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/doid.owl
### Entities and axioms
| Metric | Value |
| ------ | ----- |
| Annotation properties | 27 |
-| Axioms | 114485 |
-| Logical axioms | 16033 |
-| Classes | 13057 |
+| Axioms | 114627 |
+| Logical axioms | 16084 |
+| Classes | 13084 |
| Object properties | 2 |
| Data properties | 0 |
| Individuals | 0 |
@@ -32,11 +32,11 @@
| Metric | Value |
| ------ | ----- |
-| AnnotationAssertion | 85367 |
+| AnnotationAssertion | 85431 |
| SubAnnotationPropertyOf | 1 |
| DisjointClasses | 26 |
-| Declaration | 13084 |
-| SubClassOf | 16007 |
+| Declaration | 13111 |
+| SubClassOf | 16058 |
#### Entity namespaces: axiom counts by namespace
@@ -45,8 +45,8 @@
| ------ | ----- |
| oboInOwl | 12 |
| owl | 2 |
-| DOID | 11513 |
-| HP | 117 |
+| DOID | 11539 |
+| HP | 118 |
| xsd | 1 |
| CL | 61 |
| skos | 5 |
@@ -71,7 +71,7 @@
| Metric | Value |
| ------ | ----- |
-| Class | 45283 |
+| Class | 45412 |
More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata).
diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md
index 4fd2ba83..47cf3b6b 100644
--- a/docs/metrics/gard.md
+++ b/docs/metrics/gard.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/gard.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/gard.owl
### Entities and axioms
diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md
index 0d9834b0..eaf4c4c7 100644
--- a/docs/metrics/icd10cm.md
+++ b/docs/metrics/icd10cm.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/icd10cm.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/icd10cm.owl
### Entities and axioms
diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md
index f8e093a7..5eda06ef 100644
--- a/docs/metrics/icd10who.md
+++ b/docs/metrics/icd10who.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/icd10who.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/icd10who.owl
### Entities and axioms
diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md
index 675889cc..4a337cbe 100644
--- a/docs/metrics/ncit.md
+++ b/docs/metrics/ncit.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/ncit.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/ncit.owl
### Entities and axioms
diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md
index 9f5990dd..4e96a41f 100644
--- a/docs/metrics/omim.md
+++ b/docs/metrics/omim.md
@@ -2,16 +2,16 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/omim.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/omim.owl
### Entities and axioms
| Metric | Value |
| ------ | ----- |
| Annotation properties | 18 |
-| Axioms | 345057 |
-| Logical axioms | 22622 |
-| Classes | 19439 |
+| Axioms | 345359 |
+| Logical axioms | 22654 |
+| Classes | 19458 |
| Object properties | 7 |
| Data properties | 0 |
| Individuals | 0 |
@@ -32,17 +32,17 @@
| Metric | Value |
| ------ | ----- |
-| AnnotationAssertion | 302974 |
+| AnnotationAssertion | 303225 |
| SubAnnotationPropertyOf | 1 |
-| Declaration | 19460 |
-| SubClassOf | 22622 |
+| Declaration | 19479 |
+| SubClassOf | 22654 |
#### Entity namespaces: axiom counts by namespace
| Metric | Value |
| ------ | ----- |
-| prefix_unknown | 17996 |
+| prefix_unknown | 18015 |
| oboInOwl | 4 |
| owl | 2 |
| xsd | 1 |
@@ -61,8 +61,8 @@
| Metric | Value |
| ------ | ----- |
-| Class | 64675 |
-| ObjectSomeValuesFrom | 17745 |
+| Class | 64758 |
+| ObjectSomeValuesFrom | 17767 |
More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata).
diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md
index 6643f918..f499e2bc 100644
--- a/docs/metrics/ordo.md
+++ b/docs/metrics/ordo.md
@@ -2,7 +2,7 @@
**IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl
-**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/ordo.owl
+**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/ordo.owl
### Entities and axioms
diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md
index 5401a59d..5e6bda0e 100644
--- a/docs/reports/mapped_deprecated.md
+++ b/docs/reports/mapped_deprecated.md
@@ -1,9 +1,9 @@
# Mapped deprecated terms
| Ontology | Tot deprecated in Mondo |
|:--------------------------------------------|--------------------------:|
-| [OMIM](./mapped_deprecated_omim.md) | 44 |
-| [DOID](./mapped_deprecated_doid.md) | 3 |
-| [ORDO](./mapped_deprecated_ordo.md) | 224 |
+| [OMIM](./mapped_deprecated_omim.md) | 46 |
+| [DOID](./mapped_deprecated_doid.md) | 4 |
+| [ORDO](./mapped_deprecated_ordo.md) | 225 |
| [NCIT](./mapped_deprecated_ncit.md) | 12 |
| [GARD](./mapped_deprecated_gard.md) | 0 |
| [ICD10CM](./mapped_deprecated_icd10cm.md) | 0 |
diff --git a/docs/reports/mapped_deprecated_doid.md b/docs/reports/mapped_deprecated_doid.md
index f6ea28f8..6a42266f 100644
--- a/docs/reports/mapped_deprecated_doid.md
+++ b/docs/reports/mapped_deprecated_doid.md
@@ -7,4 +7,5 @@
| ID | A oboInOwl:hasDbXref | >A oboInOwl:source |
| MONDO:0008024 | DOID:0111201 | MONDO:equivalentObsolete |
| MONDO:0008025 | DOID:0111208 | MONDO:equivalentObsolete |
+| MONDO:0013127 | DOID:0050549 | MONDO:equivalentObsolete |
| MONDO:0015353 | DOID:0111204 | MONDO:equivalentObsolete |
\ No newline at end of file
diff --git a/docs/reports/mapped_deprecated_omim.md b/docs/reports/mapped_deprecated_omim.md
index c2528dbd..16073be5 100644
--- a/docs/reports/mapped_deprecated_omim.md
+++ b/docs/reports/mapped_deprecated_omim.md
@@ -25,6 +25,7 @@
| MONDO:0010357 | OMIM:300551 | MONDO:equivalentObsolete |
| MONDO:0010387 | OMIM:300640 | MONDO:equivalentObsolete |
| MONDO:0010394 | OMIM:300660 | MONDO:equivalentObsolete |
+| MONDO:0010425 | OMIM:300778 | MONDO:equivalentObsolete |
| MONDO:0010470 | OMIM:300881 | MONDO:equivalentObsolete |
| MONDO:0010527 | OMIM:301590 | MONDO:equivalentObsolete |
| MONDO:0010601 | OMIM:306500 | MONDO:equivalentObsolete |
@@ -33,6 +34,7 @@
| MONDO:0010859 | OMIM:600309 | MONDO:equivalentObsolete |
| MONDO:0011111 | OMIM:601563 | MONDO:equivalentObsolete |
| MONDO:0011543 | OMIM:605365 | MONDO:equivalentObsolete |
+| MONDO:0011798 | OMIM:607236 | MONDO:equivalentObsolete |
| MONDO:0011910 | OMIM:607801 | MONDO:equivalentObsolete |
| MONDO:0012144 | OMIM:608890 | MONDO:equivalentObsolete |
| MONDO:0012461 | OMIM:610269 | MONDO:equivalentObsolete |
diff --git a/docs/reports/mapped_deprecated_ordo.md b/docs/reports/mapped_deprecated_ordo.md
index 400808ea..74c1f687 100644
--- a/docs/reports/mapped_deprecated_ordo.md
+++ b/docs/reports/mapped_deprecated_ordo.md
@@ -223,6 +223,7 @@
| MONDO:0020742 | Orphanet:1317 | MONDO:equivalentObsolete |
| MONDO:0020871 | Orphanet:623 | MONDO:equivalentObsolete |
| MONDO:0021062 | Orphanet:306539 | MONDO:equivalentObsolete |
+| MONDO:0022414 | Orphanet:1526 | MONDO:equivalentObsolete |
| MONDO:0022921 | Orphanet:2861 | MONDO:equivalentObsolete |
| MONDO:0023072 | Orphanet:1939 | MONDO:equivalentObsolete |
| MONDO:0034556 | Orphanet:493348 | MONDO:equivalentObsolete |
diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md
index 984989a1..773902e4 100644
--- a/docs/reports/migrate.md
+++ b/docs/reports/migrate.md
@@ -2,10 +2,10 @@
| Ontology | Tot |
|:----------------------------------|:------|
| [GARD](./migrate_gard.md) | 9,370 |
-| [ORDO](./migrate_ordo.md) | 65 |
-| [OMIM](./migrate_omim.md) | 24 |
+| [DOID](./migrate_doid.md) | 40 |
+| [ORDO](./migrate_ordo.md) | 21 |
| [NCIT](./migrate_ncit.md) | 2,176 |
-| [DOID](./migrate_doid.md) | 198 |
+| [OMIM](./migrate_omim.md) | 14 |
| [ICD10WHO](./migrate_icd10who.md) | 119 |
| [ICD10CM](./migrate_icd10cm.md) | 1,889 |
diff --git a/docs/reports/migrate_doid.md b/docs/reports/migrate_doid.md
index 1bdcd395..06e205a8 100644
--- a/docs/reports/migrate_doid.md
+++ b/docs/reports/migrate_doid.md
@@ -2,204 +2,46 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/doid.tsv)
### Migratable terms
-| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents |
-|:--------------|:----------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:----------------------------------------------------------------------------------------------------------|:---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:----------------------------------------------------------------------|
-| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % |
-| MONDO:0956962 | benign teratoma | DOID:0080602 | MONDO:equivalentTo | benign teratoma | A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. | MONDO:0850144 |
-| MONDO:0956964 | medulloblastoma shh activated and tp53 mutant | DOID:0080704 | MONDO:equivalentTo | medulloblastoma SHH activated and TP53 mutant | A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. | MONDO:0850197 |
-| MONDO:0956965 | medulloblastoma shh activated and tp53 wild-type | DOID:0080705 | MONDO:equivalentTo | medulloblastoma SHH activated and TP53 wild-type | A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. | MONDO:0850197 |
-| MONDO:0956966 | medulloblastoma non-wnt/non-shh group 3 | DOID:0080707 | MONDO:equivalentTo | medulloblastoma non-WNT/non-SHH group 3 | A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. | MONDO:0850198 |
-| MONDO:0956967 | medulloblastoma non-wnt/non-shh group 4 | DOID:0080708 | MONDO:equivalentTo | medulloblastoma non-WNT/non-SHH group 4 | A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. | MONDO:0850198 |
-| MONDO:0956968 | gene duplication disease | DOID:0080712 | MONDO:equivalentTo | gene duplication disease | A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. | MONDO:0000275 |
-| MONDO:0956969 | chronic inducible urticaria | DOID:0080748 | MONDO:equivalentTo | chronic inducible urticaria | A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. | MONDO:0850230 |
-| MONDO:0956970 | chronic spontaneous urticaria | DOID:0080749 | MONDO:equivalentTo | chronic spontaneous urticaria | A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. | MONDO:0850230 |
-| MONDO:0956971 | intermittent asthma | DOID:0080812 | MONDO:equivalentTo | intermittent asthma | A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. | MONDO:0850282 |
-| MONDO:0956972 | persistent mild asthma | DOID:0080813 | MONDO:equivalentTo | persistent mild asthma | A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. | MONDO:0850282 |
-| MONDO:0956973 | persistent moderate asthma | DOID:0080814 | MONDO:equivalentTo | persistent moderate asthma | A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. | MONDO:0850282 |
-| MONDO:0956974 | adult-onset severe asthma | DOID:0080816 | MONDO:equivalentTo | adult-onset severe asthma | A chronic asthma that is characterized by first presentation in adulthood. | MONDO:0850282 |
-| MONDO:0956975 | t2-high asthma | DOID:0080817 | MONDO:equivalentTo | T2-high asthma | A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. | MONDO:0850282 |
-| MONDO:0956976 | t2-low asthma | DOID:0080818 | MONDO:equivalentTo | T2-low asthma | A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. | MONDO:0850282 |
-| MONDO:0956977 | near-fatal asthma | DOID:0080823 | MONDO:equivalentTo | near-fatal asthma | An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. | MONDO:0850283 |
-| MONDO:0956978 | persistent severe asthma | DOID:0080824 | MONDO:equivalentTo | persistent severe asthma | A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. | MONDO:0850282 |
-| MONDO:0956979 | nocturnal asthma | DOID:0080826 | MONDO:equivalentTo | nocturnal asthma | A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. | MONDO:0850282 |
-| MONDO:0956980 | vascular parkinsonism | DOID:0080856 | MONDO:equivalentTo | vascular Parkinsonism | A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. | MONDO:0021095 |
-| MONDO:0956981 | astrocytoma, idh-mutant, grade 4 | DOID:0080877 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 4 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. | MONDO:0850332 |
-| MONDO:0956983 | pleomorphic xanthoastrocytoma braf mutant | DOID:0080881 | MONDO:equivalentTo | pleomorphic xanthoastrocytoma BRAF mutant | An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. | MONDO:0850312 |
-| MONDO:0956984 | yap1-mamld1 fusion-positive supratentorial ependymoma | DOID:0080891 | MONDO:equivalentTo | YAP1-MAMLD1 fusion-positive supratentorial ependymoma | A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. | MONDO:0850340 |
-| MONDO:0956985 | lipofibromatosis-like neural tumor | DOID:0080894 | MONDO:equivalentTo | lipofibromatosis-like neural tumor | A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. | MONDO:0002176 |
-| MONDO:0956986 | solitary fibrous tumor/hemangiopericytoma | DOID:0080897 | MONDO:equivalentTo | solitary fibrous tumor/hemangiopericytoma | A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. | MONDO:0002176 |
-| MONDO:0956987 | ezb-myc+ diffuse large b-cell lymphoma | DOID:0081070 | MONDO:equivalentTo | EZB-MYC+ diffuse large B-cell lymphoma | An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. | MONDO:0850469 |
-| MONDO:0956988 | ezb-myc- diffuse large b-cell lymphoma | DOID:0081071 | MONDO:equivalentTo | EZB-MYC- diffuse large B-cell lymphoma | An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. | MONDO:0850469 |
-| MONDO:0956989 | cic-rearranged sarcoma | DOID:0081250 | MONDO:equivalentTo | CIC-rearranged sarcoma | An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. | MONDO:0858921 |
-| MONDO:0956990 | supratentorial ependymoma, zfta fusion–positive | DOID:0081252 | MONDO:equivalentTo | supratentorial ependymoma, ZFTA fusion–positive | A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. | MONDO:0850340 |
-| MONDO:0956991 | supratentorial ependymoma, yap1 fusion–positive | DOID:0081253 | MONDO:equivalentTo | supratentorial ependymoma, YAP1 fusion–positive | A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. | MONDO:0850340 |
-| MONDO:0956992 | posterior fossa group a ependymoma | DOID:0081254 | MONDO:equivalentTo | posterior fossa group A ependymoma | A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. | MONDO:0850339 |
-| MONDO:0956993 | posterior fossa group b ependymoma | DOID:0081255 | MONDO:equivalentTo | posterior fossa group B ependymoma | A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. | MONDO:0850339 |
-| MONDO:0956994 | astrocytoma, idh-mutant, grade 2 | DOID:0081256 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 2 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. | MONDO:0850332 |
-| MONDO:0956995 | astrocytoma, idh-mutant, grade 3 | DOID:0081257 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 3 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. | MONDO:0850332 |
-| MONDO:0956996 | oligodendroglioma, idh-mutant and 1p/19q-codeleted grade 2 | DOID:0081281 | MONDO:equivalentTo | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 | An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). | MONDO:0859592 |
-| MONDO:0956997 | oligodendroglioma, idh-mutant and 1p/19q-codeleted, grade 3 | DOID:0081282 | MONDO:equivalentTo | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. | MONDO:0859592 |
-| MONDO:0957118 | bradyopsia 2 | DOID:0070364 | MONDO:equivalentTo | bradyopsia 2 | | MONDO:0012033 |
-| MONDO:0957120 | nevoid basal cell carcinoma syndrome 2 | DOID:0070366 | MONDO:equivalentTo | nevoid basal cell carcinoma syndrome 2 | | MONDO:0007187 |
-| MONDO:0957121 | leukoencephalopathy with vanishing white matter 5 | DOID:0070367 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 5 | | MONDO:0800448 |
-| MONDO:0957122 | leukoencephalopathy with vanishing white matter 4 | DOID:0070371 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 4 | | MONDO:0800448 |
-| MONDO:0957123 | leukoencephalopathy with vanishing white matter 3 | DOID:0070372 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 3 | | MONDO:0800448 |
-| MONDO:0957124 | leukoencephalopathy with vanishing white matter 2 | DOID:0070373 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 2 | | MONDO:0800448 |
-| MONDO:0957127 | developmental and epileptic encephalopathy 31b | DOID:0070376 | MONDO:equivalentTo | developmental and epileptic encephalopathy 31B | | MONDO:0100062|MONDO:0006025 |
-| MONDO:0957181 | epidermolytic hyperkeratosis 2 | DOID:0081359 | MONDO:equivalentTo | epidermolytic hyperkeratosis 2 | An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. | MONDO:0007239 |
-| MONDO:0957195 | digenic disease | DOID:0080578 | MONDO:equivalentTo | digenic disease | | |
-| MONDO:0957196 | diffuse midline glioma, h3 k27m-mutant | DOID:0080684 | MONDO:equivalentTo | diffuse midline glioma, H3 K27M-mutant | A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. | |
-| MONDO:0957197 | diffuse glioma, h3 g34 mutant | DOID:0080880 | MONDO:equivalentTo | diffuse glioma, H3 G34 mutant | A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. | |
-| MONDO:0957327 | congenital myopathy 20 | DOID:0081352 | MONDO:equivalentTo | congenital myopathy 20 | A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. | MONDO:0019952|MONDO:0006025 |
-| MONDO:0957328 | congenital myopathy 21 | DOID:0081353 | MONDO:equivalentTo | congenital myopathy 21 | A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. | MONDO:0019952|MONDO:0006025 |
-| MONDO:0957329 | congenital myopathy 22a | DOID:0081354 | MONDO:equivalentTo | congenital myopathy 22A | A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. | MONDO:0019952|MONDO:0006025 |
-| MONDO:0957330 | congenital myopathy 22b | DOID:0081355 | MONDO:equivalentTo | congenital myopathy 22B | A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. | MONDO:0019952|MONDO:0006025 |
-| MONDO:0957353 | progressive leukoencephalopathy with ovarian failure | DOID:0070396 | MONDO:equivalentTo | progressive leukoencephalopathy with ovarian failure | | MONDO:0019046|MONDO:0006025 |
-| MONDO:0957354 | combined oxidative phosphorylation deficiency 44 | DOID:0070424 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 44 | | MONDO:0006025|MONDO:0000732 |
-| MONDO:0957355 | combined oxidative phosphorylation deficiency 52 | DOID:0070425 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 52 | | MONDO:0000732|MONDO:0006025 |
-| MONDO:0957356 | combined oxidative phosphorylation deficiency 53 | DOID:0070426 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 53 | | MONDO:0000732|MONDO:0006025 |
-| MONDO:0957357 | combined oxidative phosphorylation deficiency 54 | DOID:0070427 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 54 | | MONDO:0000732|MONDO:0006025 |
-| MONDO:0957358 | combined oxidative phosphorylation deficiency 55 | DOID:0070428 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 55 | | MONDO:0000732|MONDO:0000429 |
-| MONDO:0957359 | combined oxidative phosphorylation deficiency 56 | DOID:0070429 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 56 | | MONDO:0000732|MONDO:0006025 |
-| MONDO:0957360 | combined oxidative phosphorylation deficiency 57 | DOID:0070430 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 57 | | MONDO:0000732|MONDO:0006025 |
-| MONDO:0957361 | hyperphosphatasia with impaired intellectual development syndrome | DOID:0070431 | MONDO:equivalentTo | hyperphosphatasia with impaired intellectual development syndrome | | MONDO:0019502 |
-| MONDO:0957362 | retinal macular dystrophy | DOID:0070438 | MONDO:equivalentTo | retinal macular dystrophy | | MONDO:0003004|MONDO:0000426 |
-| MONDO:0957363 | paroxysmal nonkinesigenic dyskinesia 3 | DOID:0070442 | MONDO:equivalentTo | paroxysmal nonkinesigenic dyskinesia 3 | | MONDO:0003441|MONDO:0000426 |
-| MONDO:0957364 | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | DOID:0070443 | MONDO:equivalentTo | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | | MONDO:0019502 |
-| MONDO:0957365 | neurodevelopmental disorder with language delay and seizures | DOID:0070444 | MONDO:equivalentTo | neurodevelopmental disorder with language delay and seizures | | MONDO:0019502 |
-| MONDO:0957366 | early-onset dystonia and/or spastic paraplegia | DOID:0070445 | MONDO:equivalentTo | early-onset dystonia and/or spastic paraplegia | | MONDO:0003441|MONDO:0000426 |
-| MONDO:0957367 | mitochondrial dna depletion syndrome 16 | DOID:0070446 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 16 | | MONDO:0018158|MONDO:0006025 |
-| MONDO:0957368 | mitochondrial dna depletion syndrome 16b | DOID:0070447 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 16B | | MONDO:0018158|MONDO:0006025 |
-| MONDO:0957369 | mitochondrial dna depletion syndrome 17 | DOID:0070448 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 17 | | MONDO:0018158|MONDO:0006025 |
-| MONDO:0957370 | mitochondrial dna depletion syndrome 18 | DOID:0070449 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 18 | | MONDO:0018158|MONDO:0006025 |
-| MONDO:0957371 | mitochondrial dna depletion syndrome 19 | DOID:0070450 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 19 | | MONDO:0018158|MONDO:0006025 |
-| MONDO:0957372 | mitochondrial dna depletion syndrome 20 | DOID:0070451 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 20 | | MONDO:0018158|MONDO:0006025 |
-| MONDO:0957378 | ladd syndrome | DOID:0081370 | MONDO:equivalentTo | LADD syndrome | A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. | MONDO:0002254 |
-| MONDO:0957500 | xanthinuria type i | DOID:0070452 | MONDO:equivalentTo | xanthinuria type I | | MONDO:0018106 |
-| MONDO:0957501 | xanthinuria type ii | DOID:0070453 | MONDO:equivalentTo | xanthinuria type II | | MONDO:0018106 |
-| MONDO:0957502 | hereditary spastic paraplegia 70 | DOID:0070454 | MONDO:equivalentTo | hereditary spastic paraplegia 70 | | MONDO:0019064|MONDO:0006025 |
-| MONDO:0957503 | hereditary spastic paraplegia 79a | DOID:0070455 | MONDO:equivalentTo | hereditary spastic paraplegia 79A | | MONDO:0019064|MONDO:0000426 |
-| MONDO:0957504 | hereditary spastic paraplegia 87 | DOID:0070456 | MONDO:equivalentTo | hereditary spastic paraplegia 87 | | MONDO:0019064|MONDO:0006025 |
-| MONDO:0957505 | hereditary spastic paraplegia 88 | DOID:0070457 | MONDO:equivalentTo | hereditary spastic paraplegia 88 | | MONDO:0019064|MONDO:0000426 |
-| MONDO:0957506 | hereditary spastic paraplegia 89 | DOID:0070458 | MONDO:equivalentTo | hereditary spastic paraplegia 89 | | MONDO:0019064|MONDO:0006025 |
-| MONDO:0957507 | hereditary spastic paraplegia 90a | DOID:0070459 | MONDO:equivalentTo | hereditary spastic paraplegia 90A | | MONDO:0019064|MONDO:0000426 |
-| MONDO:0957508 | hereditary spastic paraplegia 90b | DOID:0070460 | MONDO:equivalentTo | hereditary spastic paraplegia 90B | | MONDO:0019064|MONDO:0000426 |
-| MONDO:0957509 | mitochondrial complex v (atp synthase) deficiency nuclear type 4a | DOID:0070461 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A | | MONDO:0014091|MONDO:0000426 |
-| MONDO:0957510 | mitochondrial complex v (atp synthase) deficiency nuclear type 4b | DOID:0070462 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | | MONDO:0014091|MONDO:0006025 |
-| MONDO:0957511 | mitochondrial complex v (atp synthase) deficiency nuclear type 5 | DOID:0070463 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 5 | | MONDO:0014471|MONDO:0006025 |
-| MONDO:0957512 | mitochondrial complex v (atp synthase) deficiency nuclear type 7 | DOID:0070464 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 7 | | MONDO:0014471|MONDO:0006025 |
-| MONDO:0957513 | carpal tunnel syndrome 1 | DOID:0070466 | MONDO:equivalentTo | carpal tunnel syndrome 1 | | MONDO:0007275|MONDO:0000426 |
-| MONDO:0957514 | carpal tunnel syndrome 2 | DOID:0070467 | MONDO:equivalentTo | carpal tunnel syndrome 2 | | MONDO:0007275|MONDO:0000426 |
-| MONDO:0957516 | anauxetic dysplasia 1 | DOID:0050640 | MONDO:equivalentTo | anauxetic dysplasia 1 | | MONDO:0011773|MONDO:0006025 |
-| MONDO:0957517 | congenital disorder of glycosylation type iie | DOID:0070257 | MONDO:equivalentTo | congenital disorder of glycosylation type IIe | | MONDO:0005501|MONDO:0006025 |
-| MONDO:0957518 | orofacial cleft 7 | DOID:0080400 | MONDO:equivalentTo | orofacial cleft 7 | | MONDO:0006025|MONDO:0000358 |
-| MONDO:0957519 | diffuse gastric cancer | DOID:0080763 | MONDO:equivalentTo | diffuse gastric cancer | A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. | MONDO:0001056 |
-| MONDO:0957520 | disabling pansclerotic morphea | DOID:0081373 | MONDO:equivalentTo | disabling pansclerotic morphea | A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. | MONDO:0019562 |
-| MONDO:0957521 | nemaline myopathy 5b | DOID:0081374 | MONDO:equivalentTo | nemaline myopathy 5B | A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. | MONDO:0018958|MONDO:0006025 |
-| MONDO:0957522 | nemaline myopathy 5c | DOID:0081375 | MONDO:equivalentTo | nemaline myopathy 5C | A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. | MONDO:0018958|MONDO:0000426 |
-| MONDO:0957524 | cox deficiency, benign infantile mitochondrial myopathy | DOID:0081377 | MONDO:equivalentTo | COX deficiency, benign infantile mitochondrial myopathy | A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. | MONDO:0009068 |
-| MONDO:0957525 | kyphosis | DOID:4667 | MONDO:equivalentTo | kyphosis | | MONDO:0000836|MONDO:0000812 |
-| MONDO:0957558 | li-fraumeni syndrome 1 | DOID:0111503 | MONDO:equivalentTo | Li-Fraumeni syndrome 1 | | MONDO:0018875 |
-| MONDO:0957605 | spinocerebellar ataxia with axonal neuropathy type 3 | DOID:0070465 | MONDO:equivalentTo | spinocerebellar ataxia with axonal neuropathy type 3 | | MONDO:0015244 |
-| MONDO:0957606 | yoon-bellen neurodevelopmental syndrome | DOID:0070468 | MONDO:equivalentTo | Yoon-Bellen neurodevelopmental syndrome | | MONDO:0002254|MONDO:0006025 |
-| MONDO:0957607 | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | DOID:0070469 | MONDO:equivalentTo | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | | MONDO:0015802 |
-| MONDO:0957608 | early-onset epilepsy 2 | DOID:0070471 | MONDO:equivalentTo | early-onset epilepsy 2 | | MONDO:0005027|MONDO:0000426 |
-| MONDO:0957609 | early-onset epilepsy 3 | DOID:0070472 | MONDO:equivalentTo | early-onset epilepsy 3 | | MONDO:0005027|MONDO:0000426 |
-| MONDO:0957610 | smarcb1-deficient renal medullary carcinoma | DOID:0070475 | MONDO:equivalentTo | SMARCB1-deficient renal medullary carcinoma | | MONDO:0005086 |
-| MONDO:0957611 | diphthamide deficiency syndrome | DOID:0070476 | MONDO:equivalentTo | diphthamide deficiency syndrome | | MONDO:0006025|MONDO:0004736 |
-| MONDO:0957612 | schwannomatosis 1 | DOID:0070480 | MONDO:equivalentTo | schwannomatosis 1 | | MONDO:0008075 |
-| MONDO:0957613 | schwannomatosis 2 | DOID:0070481 | MONDO:equivalentTo | schwannomatosis 2 | | MONDO:0008075 |
-| MONDO:0957614 | spinal neurofibromatosis | DOID:0070482 | MONDO:equivalentTo | spinal neurofibromatosis | | MONDO:0018975 |
-| MONDO:0957615 | watson syndrome | DOID:0070483 | MONDO:equivalentTo | Watson syndrome | | MONDO:0021060|MONDO:0000426 |
-| MONDO:0957616 | legius syndrome | DOID:0070484 | MONDO:equivalentTo | Legius syndrome | | MONDO:0021060|MONDO:0000426 |
-| MONDO:0957617 | amyotrophic lateral sclerosis type 24 | DOID:0081378 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 24 | An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33. | MONDO:0004976|MONDO:0000426 |
-| MONDO:0957618 | amyotrophic lateral sclerosis type 25 | DOID:0081379 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 25 | An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). | MONDO:0004976|MONDO:0000426 |
-| MONDO:0957619 | amyotrophic lateral sclerosis type 26 | DOID:0081380 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 26 | An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. | MONDO:0004976|MONDO:0000426 |
-| MONDO:0957620 | juvenile amyotrophic lateral sclerosis type 27 | DOID:0081381 | MONDO:equivalentTo | juvenile amyotrophic lateral sclerosis type 27 | An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. | MONDO:0004976|MONDO:0000426 |
-| MONDO:0957621 | amyotrophic lateral sclerosis type 28 | DOID:0081382 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 28 | An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. | MONDO:0004976|MONDO:0000426 |
-| MONDO:0957847 | sotos syndrome 1 | DOID:0112103 | MONDO:equivalentTo | Sotos syndrome 1 | | MONDO:0019349|MONDO:0000426 |
-| MONDO:0957848 | epstein-barr virus infectious disease | DOID:2938 | MONDO:equivalentTo | Epstein-Barr virus infectious disease | | MONDO:0005108 |
-| MONDO:0957878 | proteosome-associated autoinflammatory syndrome | DOID:0060913 | MONDO:equivalentTo | proteosome-associated autoinflammatory syndrome | | MONDO:0002254 |
-| MONDO:0957879 | otosclerosis 1 | DOID:0060920 | MONDO:equivalentTo | otosclerosis 1 | | MONDO:0005349 |
-| MONDO:0957880 | otosclerosis 2 | DOID:0060921 | MONDO:equivalentTo | otosclerosis 2 | | MONDO:0005349 |
-| MONDO:0957881 | otosclerosis 3 | DOID:0060922 | MONDO:equivalentTo | otosclerosis 3 | | MONDO:0005349 |
-| MONDO:0957882 | otosclerosis 4 | DOID:0060923 | MONDO:equivalentTo | otosclerosis 4 | | MONDO:0005349 |
-| MONDO:0957883 | otosclerosis 5 | DOID:0060924 | MONDO:equivalentTo | otosclerosis 5 | | MONDO:0005349 |
-| MONDO:0957884 | otosclerosis 7 | DOID:0060925 | MONDO:equivalentTo | otosclerosis 7 | | MONDO:0005349 |
-| MONDO:0957885 | otosclerosis 8 | DOID:0060926 | MONDO:equivalentTo | otosclerosis 8 | | MONDO:0005349 |
-| MONDO:0957886 | otosclerosis 10 | DOID:0060927 | MONDO:equivalentTo | otosclerosis 10 | | MONDO:0005349 |
-| MONDO:0957887 | otosclerosis 11 | DOID:0060928 | MONDO:equivalentTo | otosclerosis 11 | | MONDO:0005349 |
-| MONDO:0957888 | non-syndromic x-linked intellectual developmental disorder 111 | DOID:0060929 | MONDO:equivalentTo | non-syndromic X-linked intellectual developmental disorder 111 | | MONDO:0019181 |
-| MONDO:0957889 | chromosome 1p36.33 duplication syndrome | DOID:0070470 | MONDO:equivalentTo | chromosome 1p36.33 duplication syndrome | | MONDO:0000426|MONDO:0000762 |
-| MONDO:0957890 | zaki syndrome | DOID:0070473 | MONDO:equivalentTo | Zaki syndrome | | MONDO:0002254|MONDO:0006025 |
-| MONDO:0957891 | childhood-onset neurodegeneration with brain atrophy | DOID:0070474 | MONDO:equivalentTo | childhood-onset neurodegeneration with brain atrophy | | MONDO:0000426|MONDO:0005559 |
-| MONDO:0957892 | mitochondrial complex iv deficiency nuclear type 23 | DOID:0070485 | MONDO:equivalentTo | mitochondrial complex IV deficiency nuclear type 23 | | MONDO:0009068|MONDO:0006025 |
-| MONDO:0957893 | parkinson's disease 25 | DOID:0070486 | MONDO:equivalentTo | Parkinson's disease 25 | | MONDO:0017279|MONDO:0006025 |
-| MONDO:0957894 | dopamine transporter deficiency syndrome | DOID:0070487 | MONDO:equivalentTo | dopamine transporter deficiency syndrome | | MONDO:0005395|MONDO:0000429 |
-| MONDO:0957895 | infantile parkinsonism-dystonia 2 | DOID:0070490 | MONDO:equivalentTo | infantile parkinsonism-dystonia 2 | | MONDO:0005395|MONDO:0006025 |
-| MONDO:0957896 | metabolic dysfunction and alcohol associated liver disease | DOID:0070508 | MONDO:equivalentTo | metabolic dysfunction and alcohol associated liver disease | | MONDO:0004790 |
-| MONDO:0957897 | schinzel giedion syndrome | DOID:0070509 | MONDO:equivalentTo | Schinzel Giedion syndrome | | MONDO:0000426|MONDO:0019287 |
-| MONDO:0957898 | inflammatory poikiloderma with hair abnormalities and acral keratoses | DOID:0070510 | MONDO:equivalentTo | inflammatory poikiloderma with hair abnormalities and acral keratoses | | MONDO:0006025|MONDO:0005093 |
-| MONDO:0957899 | polyhydramnios, megalencephaly, and symptomatic epilepsy | DOID:0070511 | MONDO:equivalentTo | polyhydramnios, megalencephaly, and symptomatic epilepsy | | MONDO:0006025|MONDO:0002254 |
-| MONDO:0957900 | neurodevelopmental disorder with hypotonia and speech delay | DOID:0070512 | MONDO:equivalentTo | neurodevelopmental disorder with hypotonia and speech delay | | MONDO:0002254|MONDO:0000429 |
-| MONDO:0957901 | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | DOID:0070513 | MONDO:equivalentTo | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | | MONDO:0015802 |
-| MONDO:0957902 | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | DOID:0070514 | MONDO:equivalentTo | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | | MONDO:0015802 |
-| MONDO:0957903 | chromosome 16p11.2 deletion syndrome, 593-kb | DOID:0070515 | MONDO:equivalentTo | chromosome 16p11.2 deletion syndrome, 593-kb | | MONDO:0000761 |
-| MONDO:0957904 | mitchell syndrome | DOID:0070516 | MONDO:equivalentTo | Mitchell syndrome | | MONDO:0019053|MONDO:0000426 |
-| MONDO:0957905 | ataxia-oculomotor apraxia type 4 | DOID:0081383 | MONDO:equivalentTo | ataxia-oculomotor apraxia type 4 | An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. | MONDO:0015244 |
-| MONDO:0957906 | ataxia-telangiectasia-like disorder-1 | DOID:0081384 | MONDO:equivalentTo | ataxia-telangiectasia-like disorder-1 | An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. | MONDO:0015244 |
-| MONDO:0957907 | ataxia-telangiectasia-like disorder-2 | DOID:0081385 | MONDO:equivalentTo | ataxia-telangiectasia-like disorder-2 | An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. | MONDO:0015244 |
-| MONDO:0957908 | tango2-related metabolic encephalopathy and arrythmias | DOID:0081386 | MONDO:equivalentTo | TANGO2-related metabolic encephalopathy and arrythmias | A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. | MONDO:0002254|MONDO:0006025 |
-| MONDO:0957909 | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | DOID:0081387 | MONDO:equivalentTo | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. | MONDO:0019502 |
-| MONDO:0957910 | primary progressive aphasia | DOID:0081388 | MONDO:equivalentTo | primary progressive aphasia | A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. | MONDO:0017276 |
-| MONDO:0957911 | corticobasal degeneration syndrome | DOID:0081392 | MONDO:equivalentTo | corticobasal degeneration syndrome | A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. | MONDO:0017276 |
-| MONDO:0957912 | organophosphate-induced delayed polyneuropathy | DOID:0081393 | MONDO:equivalentTo | organophosphate-induced delayed polyneuropathy | An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. | MONDO:0002336 |
-| MONDO:0957913 | caroli syndrome | DOID:0081394 | MONDO:equivalentTo | Caroli syndrome | A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. | MONDO:0004634|MONDO:0002887|MONDO:0002405|MONDO:0002254|MONDO:0006025 |
-| MONDO:0957914 | harel-yoon syndrome | DOID:0081395 | MONDO:equivalentTo | Harel-Yoon syndrome | A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. | MONDO:0006025|MONDO:0000426|MONDO:0002254 |
-| MONDO:0957915 | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome | DOID:0081396 | MONDO:equivalentTo | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome | A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. | MONDO:0002254|MONDO:0006025 |
-| MONDO:0957916 | vissers-bodmer syndrome | DOID:0081397 | MONDO:equivalentTo | Vissers-Bodmer syndrome | A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. | MONDO:0002254|MONDO:0000426 |
-| MONDO:0957917 | holoprosencephaly 12 | DOID:0081398 | MONDO:equivalentTo | holoprosencephaly 12 | A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. | MONDO:0016296|MONDO:0000426 |
-| MONDO:0958140 | developmental dysplasia of the hip | DOID:0060930 | MONDO:equivalentTo | developmental dysplasia of the hip | | MONDO:0005497 |
-| MONDO:0958141 | familial multiple lipomatosis | DOID:0070518 | MONDO:equivalentTo | familial multiple lipomatosis | | MONDO:0000426|MONDO:0006574 |
-| MONDO:0958142 | early-onset vitamin b6-dependent epilepsy 4 | DOID:0070519 | MONDO:equivalentTo | early-onset vitamin B6-dependent epilepsy 4 | | MONDO:0009945 |
-| MONDO:0958143 | peeling skin syndrome 1 | DOID:0070520 | MONDO:equivalentTo | peeling skin syndrome 1 | | MONDO:0019347 |
-| MONDO:0958144 | peeling skin syndrome 2 | DOID:0070521 | MONDO:equivalentTo | peeling skin syndrome 2 | | MONDO:0019347 |
-| MONDO:0958145 | peeling skin syndrome 3 | DOID:0070522 | MONDO:equivalentTo | peeling skin syndrome 3 | | MONDO:0019347 |
-| MONDO:0958146 | peeling skin syndrome 4 | DOID:0070523 | MONDO:equivalentTo | peeling skin syndrome 4 | | MONDO:0019347 |
-| MONDO:0958147 | peeling skin syndrome 5 | DOID:0070524 | MONDO:equivalentTo | peeling skin syndrome 5 | | MONDO:0019347 |
-| MONDO:0958148 | peeling skin syndrome 6 | DOID:0070525 | MONDO:equivalentTo | peeling skin syndrome 6 | | MONDO:0019347 |
-| MONDO:0958149 | plack syndrome | DOID:0070526 | MONDO:equivalentTo | PLACK syndrome | | MONDO:0005093|MONDO:0006025 |
-| MONDO:0958150 | borrelia miyamotoi disease | DOID:0070527 | MONDO:equivalentTo | Borrelia miyamotoi disease | | MONDO:0000314 |
-| MONDO:0958151 | cepacia syndrome | DOID:0070528 | MONDO:equivalentTo | cepacia syndrome | | MONDO:0000316 |
-| MONDO:0958152 | sifrim-hitz-weiss syndrome | DOID:0070529 | MONDO:equivalentTo | Sifrim-Hitz-Weiss syndrome | | MONDO:0015802 |
-| MONDO:0958153 | foveal hypoplasia 1 | DOID:0070530 | MONDO:equivalentTo | foveal hypoplasia 1 | | MONDO:0005283|MONDO:0000426 |
-| MONDO:0958154 | foveal hypoplasia 2 | DOID:0070531 | MONDO:equivalentTo | foveal hypoplasia 2 | | MONDO:0006025|MONDO:0005283 |
-| MONDO:0958155 | aniridia 1 | DOID:0070532 | MONDO:equivalentTo | aniridia 1 | | MONDO:0019172|MONDO:0000426 |
-| MONDO:0958156 | autosomal dominant distal hereditary motor neuronopathy 10 | DOID:0081399 | MONDO:equivalentTo | autosomal dominant distal hereditary motor neuronopathy 10 | An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. | MONDO:0015362 |
-| MONDO:0958157 | autosomal dominant distal hereditary motor neuronopathy 11 | DOID:0081400 | MONDO:equivalentTo | autosomal dominant distal hereditary motor neuronopathy 11 | An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. | MONDO:0015362 |
-| MONDO:0958158 | autosomal dominant distal hereditary motor neuronopathy 13 | DOID:0081401 | MONDO:equivalentTo | autosomal dominant distal hereditary motor neuronopathy 13 | An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. | MONDO:0015362 |
-| MONDO:0958159 | sarcoma with bcor genetic alterations | DOID:0081402 | MONDO:equivalentTo | sarcoma with BCOR genetic alterations | A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. | MONDO:0006974 |
-| MONDO:0958160 | round cell sarcoma with ewsr1-non-ets fusion | DOID:0081406 | MONDO:equivalentTo | round cell sarcoma with EWSR1-non-ETS fusion | A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. | MONDO:0006974 |
-| MONDO:0958161 | b acute lymphoblastic leukemia with pax5 p80r mutation | DOID:0081411 | MONDO:equivalentTo | B acute lymphoblastic leukemia with PAX5 P80R mutation | A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. | MONDO:0004947 |
-| MONDO:0958162 | b acute lymphoblastic leukemia with dux4 rearrangement | DOID:0081412 | MONDO:equivalentTo | B acute lymphoblastic leukemia with DUX4 rearrangement | A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. | MONDO:0004947 |
-| MONDO:0958163 | renal cell carcinoma with mit translocations | DOID:0081413 | MONDO:equivalentTo | renal cell carcinoma with MiT translocations | A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. | MONDO:0005086 |
-| MONDO:0958164 | poorly differentiated chordoma | DOID:0081417 | MONDO:equivalentTo | poorly differentiated chordoma | A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. | MONDO:0008978 |
-| MONDO:0958165 | anaplastic sarcoma of the kidney | DOID:0081418 | MONDO:equivalentTo | anaplastic sarcoma of the kidney | A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. | MONDO:0002930 |
-| MONDO:0958166 | childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | DOID:0081419 | MONDO:equivalentTo | childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. | MONDO:0003441|MONDO:0006025 |
-| MONDO:0958167 | familial focal epilepsy with variable foci | DOID:0081420 | MONDO:equivalentTo | familial focal epilepsy with variable foci | A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. | MONDO:0000426|MONDO:0005384 |
-| MONDO:0958168 | autosomal recessive distal hereditary motor neuronopathy 6 | DOID:0081425 | MONDO:equivalentTo | autosomal recessive distal hereditary motor neuronopathy 6 | An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11. | MONDO:0015363 |
-| MONDO:0958169 | autosomal recessive distal hereditary motor neuronopathy 7 | DOID:0081426 | MONDO:equivalentTo | autosomal recessive distal hereditary motor neuronopathy 7 | An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. | MONDO:0015363 |
-| MONDO:0958170 | autosomal recessive distal hereditary motor neuronopathy 8 | DOID:0081427 | MONDO:equivalentTo | autosomal recessive distal hereditary motor neuronopathy 8 | An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. | MONDO:0015363 |
-| MONDO:0958171 | autosomal recessive distal hereditary motor neuronopathy 9 | DOID:0081428 | MONDO:equivalentTo | autosomal recessive distal hereditary motor neuronopathy 9 | An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. | MONDO:0015363 |
-| MONDO:0958172 | autosomal recessive distal hereditary motor neuronopathy 10 | DOID:0081429 | MONDO:equivalentTo | autosomal recessive distal hereditary motor neuronopathy 10 | An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. | MONDO:0015363 |
-| MONDO:0958208 | developmental delay, dysmorphic facies, and brain anomalies | DOID:0060933 | MONDO:equivalentTo | developmental delay, dysmorphic facies, and brain anomalies | | MONDO:0015802 |
-| MONDO:0958209 | neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | DOID:0060934 | MONDO:equivalentTo | neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | MONDO:0019502 |
-| MONDO:0958210 | infantile hypotonia with psychomotor retardation and characteristic facies-3 | DOID:0060935 | MONDO:equivalentTo | infantile hypotonia with psychomotor retardation and characteristic facies-3 | | MONDO:0019502 |
-| MONDO:0958211 | long qt syndrome 16 | DOID:0070533 | MONDO:equivalentTo | long QT syndrome 16 | | MONDO:0002442|MONDO:0000426 |
-| MONDO:0958212 | arrhythmogenic left ventricular cardiomyopathy | DOID:0070534 | MONDO:equivalentTo | arrhythmogenic left ventricular cardiomyopathy | | MONDO:0000591 |
-| MONDO:0958213 | arrhythmogenic biventricular cardiomyopathy | DOID:0070535 | MONDO:equivalentTo | arrhythmogenic biventricular cardiomyopathy | | MONDO:0000591 |
-| MONDO:0958214 | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | DOID:0070536 | MONDO:equivalentTo | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | | MONDO:0015802 |
-| MONDO:0958215 | spastic tetraplegia, thin corpus callosum, and progressive microcephaly | DOID:0070537 | MONDO:equivalentTo | spastic tetraplegia, thin corpus callosum, and progressive microcephaly | | MONDO:0019502 |
-| MONDO:0958216 | syndromic x-linked intellectual developmental disorder bain type | DOID:0070538 | MONDO:equivalentTo | syndromic X-linked intellectual developmental disorder bain type | | MONDO:0020119 |
-| MONDO:0958217 | intellectual developmental disorder with autistic features and language delay, with or without seizures | DOID:0081430 | MONDO:equivalentTo | intellectual developmental disorder with autistic features and language delay, with or without seizures | An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. | MONDO:0015802 |
-| MONDO:0958218 | long qt syndrome 8 | DOID:0110649 | MONDO:equivalentTo | long QT syndrome 8 | | MONDO:0002442|MONDO:0000426 |
\ No newline at end of file
+| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents |
+|:--------------|:--------------------------------------------------------------------------|:---------------------|:---------------------------|:--------------------------------------------------------------------------|:------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:------------------------------------------|
+| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % |
+| MONDO:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 |
+| MONDO:0958282 | dystonia 28 childhood-onset | DOID:0060936 | MONDO:equivalentTo | dystonia 28 childhood-onset | | MONDO:0003441|MONDO:0000426 |
+| MONDO:0958283 | dystonia 30 | DOID:0060937 | MONDO:equivalentTo | dystonia 30 | | MONDO:0003441|MONDO:0000426 |
+| MONDO:0958284 | dystonia 31 | DOID:0060938 | MONDO:equivalentTo | dystonia 31 | | MONDO:0003441|MONDO:0006025 |
+| MONDO:0958285 | dystonia 32 | DOID:0060939 | MONDO:equivalentTo | dystonia 32 | | MONDO:0003441|MONDO:0006025 |
+| MONDO:0958286 | dystonia 33 | DOID:0060940 | MONDO:equivalentTo | dystonia 33 | | MONDO:0003441|MONDO:0000426 |
+| MONDO:0958287 | episodic kinesigenic dyskinesia 3 | DOID:0060944 | MONDO:equivalentTo | episodic kinesigenic dyskinesia 3 | | MONDO:0003441|MONDO:0000426 |
+| MONDO:0958288 | dystonia 35, childhood-onset | DOID:0060955 | MONDO:equivalentTo | dystonia 35, childhood-onset | | MONDO:0003441|MONDO:0006025 |
+| MONDO:0958289 | dystonia 37, early-onset with striatal lesions | DOID:0060956 | MONDO:equivalentTo | dystonia 37, early-onset with striatal lesions | | MONDO:0003441|MONDO:0006025 |
+| MONDO:0958290 | myoclonic dystonia 34 | DOID:0060957 | MONDO:equivalentTo | myoclonic dystonia 34 | | MONDO:0003441|MONDO:0000426 |
+| MONDO:0958291 | dystonia, dopa-responsive | DOID:0060963 | MONDO:equivalentTo | dystonia, DOPA-responsive | | MONDO:0003441|MONDO:0000426 |
+| MONDO:0958292 | dystonia 22, juvenile-onset | DOID:0060966 | MONDO:equivalentTo | dystonia 22, juvenile-onset | | MONDO:0003441|MONDO:0006025 |
+| MONDO:0958293 | dystonia 22, adult-onset | DOID:0060967 | MONDO:equivalentTo | dystonia 22, adult-onset | | MONDO:0003441|MONDO:0006025 |
+| MONDO:0958294 | halperin-birk syndrome | DOID:0070539 | MONDO:equivalentTo | Halperin-Birk syndrome | | MONDO:0006025|MONDO:0002254 |
+| MONDO:0958295 | bcor itd sarcoma | DOID:0081403 | MONDO:equivalentTo | BCOR ITD sarcoma | A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. | MONDO:0958159 |
+| MONDO:0958296 | bcor-ccnb3 sarcoma | DOID:0081404 | MONDO:equivalentTo | BCOR-CCNB3 sarcoma | A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. | MONDO:0958159 |
+| MONDO:0958297 | childhood sarcoma with bcor genetic alterations | DOID:0081405 | MONDO:equivalentTo | childhood sarcoma with BCOR genetic alterations | A sarcoma with BCOR genetic alterations that occurs during childhood. | MONDO:0958159 |
+| MONDO:0958298 | childhood round cell sarcoma with ewsr1-non-ets fusion | DOID:0081407 | MONDO:equivalentTo | childhood round cell sarcoma with EWSR1-non-ETS fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. | MONDO:0958160 |
+| MONDO:0958299 | round cell sarcoma with ewsr1-nfatc2 gene fusion | DOID:0081408 | MONDO:equivalentTo | round cell sarcoma with EWSR1-NFATC2 gene fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. | MONDO:0958160 |
+| MONDO:0958300 | round cell sarcoma with ewsr1-patz1 gene fusion | DOID:0081409 | MONDO:equivalentTo | round cell sarcoma with EWSR1-PATZ1 gene fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. | MONDO:0958160 |
+| MONDO:0958301 | round cell sarcoma with fus-nfatc2 gene fusion | DOID:0081410 | MONDO:equivalentTo | round cell sarcoma with FUS-NFATC2 gene fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. | MONDO:0958160 |
+| MONDO:0958302 | tfeb-rearranged renal cell carcinoma | DOID:0081414 | MONDO:equivalentTo | TFEB-rearranged renal cell carcinoma | A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. | MONDO:0017886 |
+| MONDO:0958303 | childhood renal cell carcinoma with mit translocations | DOID:0081416 | MONDO:equivalentTo | childhood renal cell carcinoma with MiT translocations | A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. | MONDO:0017886 |
+| MONDO:0958304 | microcephaly, short stature, and limb abnormalities | DOID:0081431 | MONDO:equivalentTo | microcephaly, short stature, and limb abnormalities | An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. | MONDO:0005516|MONDO:0006025 |
+| MONDO:0958305 | microcephaly-micromelia syndrome | DOID:0081432 | MONDO:equivalentTo | microcephaly-micromelia syndrome | A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. | MONDO:0002254 |
+| MONDO:0958306 | peroxisome biogenesis disorder 4b | DOID:0081433 | MONDO:equivalentTo | Peroxisome biogenesis disorder 4B | | MONDO:0019234|MONDO:0006025|MONDO:0000426 |
+| MONDO:0958307 | peroxisome biogenesis disorder 5b | DOID:0081434 | MONDO:equivalentTo | Peroxisome biogenesis disorder 5B | | MONDO:0019234|MONDO:0006025 |
+| MONDO:0958308 | peroxisome biogenesis disorder 6b | DOID:0081435 | MONDO:equivalentTo | Peroxisome biogenesis disorder 6B | | MONDO:0019234|MONDO:0006025 |
+| MONDO:0958309 | peroxisome biogenesis disorder 7b | DOID:0081436 | MONDO:equivalentTo | Peroxisome biogenesis disorder 7B | | MONDO:0019234|MONDO:0006025 |
+| MONDO:0958310 | peroxisome biogenesis disorder 8b | DOID:0081437 | MONDO:equivalentTo | Peroxisome biogenesis disorder 8B | | MONDO:0019234|MONDO:0006025 |
+| MONDO:0958311 | peroxisome biogenesis disorder 9b | DOID:0081438 | MONDO:equivalentTo | Peroxisome biogenesis disorder 9B | | MONDO:0019234|MONDO:0006025 |
+| MONDO:0958312 | peroxisome biogenesis disorder 11b | DOID:0081439 | MONDO:equivalentTo | Peroxisome biogenesis disorder 11B | | MONDO:0019234|MONDO:0006025 |
+| MONDO:0958313 | peroxisome biogenesis disorder 10b | DOID:0081440 | MONDO:equivalentTo | Peroxisome biogenesis disorder 10B | | MONDO:0019234|MONDO:0006025 |
+| MONDO:0958314 | nicolaides-baraitser syndrome | DOID:0081441 | MONDO:equivalentTo | Nicolaides-Baraitser syndrome | A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. | MONDO:0000426|MONDO:0002254 |
+| MONDO:0958315 | blepharophimosis-impaired intellectual development syndrome | DOID:0081442 | MONDO:equivalentTo | blepharophimosis-impaired intellectual development syndrome | A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. | MONDO:0002254|MONDO:0000426 |
+| MONDO:0958316 | stolerman neurodevelopmental syndrome | DOID:0081443 | MONDO:equivalentTo | Stolerman neurodevelopmental syndrome | A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. | MONDO:0002254 |
+| MONDO:0958317 | neurodevelopmental disorder with poor growth and behavioral abnormalities | DOID:0081444 | MONDO:equivalentTo | neurodevelopmental disorder with poor growth and behavioral abnormalities | An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. | MONDO:0019502 |
+| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 |
+| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | |
+| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | |
\ No newline at end of file
diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md
index f2f5c588..4da13f20 100644
--- a/docs/reports/migrate_omim.md
+++ b/docs/reports/migrate_omim.md
@@ -2,30 +2,20 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/omim.tsv)
### Migratable terms
-| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents |
-|:--------------|:------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:------------------------------------------------------------------------------------------------------|:--------------|:----------|
-| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % |
-| MONDO:0958222 | maple syrup urine disease, iia 1b | OMIM:620698 | MONDO:equivalentTo | maple syrup urine disease, iia 1b | | |
-| MONDO:0958223 | maple syrup urine disease, iia 2 | OMIM:620699 | MONDO:equivalentTo | maple syrup urine disease, iia 2 | | |
-| MONDO:0958224 | encephalopathy, porphyria-related | OMIM:620704 | MONDO:equivalentTo | encephalopathy, porphyria-related | | |
-| MONDO:0958225 | epidermolytic hyperkeratosis 2b, autosomal recessive | OMIM:620707 | MONDO:equivalentTo | epidermolytic hyperkeratosis 2b, autosomal recessive | | |
-| MONDO:0958226 | leukoencephalopathy, porphyria-related | OMIM:620711 | MONDO:equivalentTo | leukoencephalopathy, porphyria-related | | |
-| MONDO:0958227 | polydactyly-macrocephaly syndrome | OMIM:620712 | MONDO:equivalentTo | polydactyly-macrocephaly syndrome | | |
-| MONDO:0958228 | deafness, autosomal recessive 122 | OMIM:620714 | MONDO:equivalentTo | deafness, autosomal recessive 122 | | |
-| MONDO:0958229 | bleeding disorder, vascular-type | OMIM:620715 | MONDO:equivalentTo | bleeding disorder, vascular-type | | |
-| MONDO:0958230 | orofaciodigital syndrome 20 | OMIM:620718 | MONDO:equivalentTo | orofaciodigital syndrome 20 | | |
-| MONDO:0958231 | neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism | OMIM:620719 | MONDO:equivalentTo | neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism | | |
-| MONDO:0958232 | deafness, autosomal dominant 90 | OMIM:620722 | MONDO:equivalentTo | deafness, autosomal dominant 90 | | |
-| MONDO:0958233 | bethlem myopathy 1b | OMIM:620725 | MONDO:equivalentTo | bethlem myopathy 1b | | |
-| MONDO:0958234 | bethlem myopathy 1c | OMIM:620726 | MONDO:equivalentTo | bethlem myopathy 1c | | |
-| MONDO:0958235 | ullrich congenital muscular dystrophy 1b | OMIM:620727 | MONDO:equivalentTo | ullrich congenital muscular dystrophy 1b | | |
-| MONDO:0958236 | ullrich congenital muscular dystrophy 1c | OMIM:620728 | MONDO:equivalentTo | ullrich congenital muscular dystrophy 1c | | |
-| MONDO:0958237 | hyperferritinemia | OMIM:620729 | MONDO:equivalentTo | hyperferritinemia | | |
-| MONDO:0958238 | hyperemesis gravidarum, susceptibility to | OMIM:620730 | MONDO:equivalentTo | hyperemesis gravidarum, susceptibility to | | |
-| MONDO:0958239 | microphthalmia/coloboma 11 | OMIM:620731 | MONDO:equivalentTo | microphthalmia/coloboma 11 | | |
-| MONDO:0958240 | neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities | OMIM:620732 | MONDO:equivalentTo | neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities | | |
-| MONDO:0958241 | cardiomyopathy, familial hypertrophic, 30, atrial | OMIM:620734 | MONDO:equivalentTo | cardiomyopathy, familial hypertrophic, 30, atrial | | |
-| MONDO:0958242 | spermatogenic failure 90 | OMIM:620744 | MONDO:equivalentTo | spermatogenic failure 90 | | |
-| MONDO:0958277 | deafness, autosomal recessive 123 | OMIM:620745 | MONDO:equivalentTo | deafness, autosomal recessive 123 | | |
-| MONDO:0958278 | neurodevelopmental disorder with hypotonia and characteristic brain abnormalities | OMIM:620746 | MONDO:equivalentTo | neurodevelopmental disorder with hypotonia and characteristic brain abnormalities | | |
-| MONDO:0958279 | megalencephaly-polydactyly syndrome | OMIM:620748 | MONDO:equivalentTo | megalencephaly-polydactyly syndrome | | |
\ No newline at end of file
+| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents |
+|:--------------|:---------------------------------------------------------------------------------------|:---------------------|:---------------------------|:---------------------------------------------------------------------------------------|:--------------|:----------|
+| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % |
+| MONDO:0958322 | intellectual developmental disorder, x-linked, syndromic 37 | OMIM:301118 | MONDO:equivalentTo | intellectual developmental disorder, x-linked, syndromic 37 | | |
+| MONDO:0958323 | neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | OMIM:620747 | MONDO:equivalentTo | neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | | |
+| MONDO:0958324 | generalized epilepsy with febrile seizures plus, type 12 | OMIM:620755 | MONDO:equivalentTo | generalized epilepsy with febrile seizures plus, type 12 | | |
+| MONDO:0958325 | thrombocytopenia 12 with or without myopathy | OMIM:620757 | MONDO:equivalentTo | thrombocytopenia 12 with or without myopathy | | |
+| MONDO:0958326 | macular dystrophy with or without cone dysfunction | OMIM:620762 | MONDO:equivalentTo | macular dystrophy with or without cone dysfunction | | |
+| MONDO:0958327 | corneal dystrophy, lisch epithelial | OMIM:620763 | MONDO:equivalentTo | corneal dystrophy, lisch epithelial | | |
+| MONDO:0958328 | seckel syndrome 11 | OMIM:620767 | MONDO:equivalentTo | seckel syndrome 11 | | |
+| MONDO:0958329 | jeffries-lakhani neurodevelopmental syndrome | OMIM:620771 | MONDO:equivalentTo | jeffries-lakhani neurodevelopmental syndrome | | |
+| MONDO:0958330 | developmental and epileptic encephalopathy 113 | OMIM:620772 | MONDO:equivalentTo | developmental and epileptic encephalopathy 113 | | |
+| MONDO:0958331 | developmental and epileptic encephalopathy 114 | OMIM:620774 | MONDO:equivalentTo | developmental and epileptic encephalopathy 114 | | |
+| MONDO:0958332 | neuromuscular disorder, congenital, with dysmorphic facies | OMIM:620775 | MONDO:equivalentTo | neuromuscular disorder, congenital, with dysmorphic facies | | |
+| MONDO:0958333 | thrombocytopenia 13, syndromic | OMIM:620776 | MONDO:equivalentTo | thrombocytopenia 13, syndromic | | |
+| MONDO:0958334 | pulmonary hypertension, primary, 6 | OMIM:620777 | MONDO:equivalentTo | pulmonary hypertension, primary, 6 | | |
+| MONDO:0958335 | cutis laxa, autosomal recessive, type 1d | OMIM:620780 | MONDO:equivalentTo | cutis laxa, autosomal recessive, type 1d | | |
\ No newline at end of file
diff --git a/docs/reports/migrate_ordo.md b/docs/reports/migrate_ordo.md
index b8a24b57..bcc5c83a 100644
--- a/docs/reports/migrate_ordo.md
+++ b/docs/reports/migrate_ordo.md
@@ -2,71 +2,27 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/ordo.tsv)
### Migratable terms
-| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents |
-|:--------------|:---------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:---------------------------------------------------------------------------------------------------|:---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:--------------------------------------------------------------------------------------------------|
-| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % |
-| MONDO:0958045 | unclassified autoinflammatory syndrome of childhood | Orphanet:324953 | MONDO:equivalentTo | Unclassified autoinflammatory syndrome of childhood | | MONDO:8000033|MONDO:0957018 |
-| MONDO:0958046 | unexplained periodic fever syndrome of childhood | Orphanet:324960 | MONDO:equivalentTo | Unexplained periodic fever syndrome of childhood | | MONDO:8000033|MONDO:0957403 |
-| MONDO:0958053 | syndromic chorioretinal dystrophy | Orphanet:519321 | MONDO:equivalentTo | Syndromic chorioretinal dystrophy | | MONDO:8000033 |
-| MONDO:0958071 | hao-fountain syndrome due to usp7 mutation | Orphanet:643538 | MONDO:equivalentTo | Hao-Fountain syndrome due to USP7 mutation | | MONDO:0014805|MONDO:8000031 |
-| MONDO:0958073 | open spinal dysraphism with a posterior meningocele | Orphanet:645270 | MONDO:equivalentTo | Open spinal dysraphism with a posterior meningocele | A rare dysraphism characterized by absence of skin covering, the neural elements are exposed to the external environment and there is herniation of a cerebrospinal fluid filled sac through a posterior spina bifida. It is typically located in the lumbosacral region. Evidence of complete or partial Chiari II malformation is present. | MONDO:8000033|MONDO:0017069|MONDO:0017062 |
-| MONDO:0958075 | intramedullary non-dysraphic spinal cord lipoma | Orphanet:645359 | MONDO:equivalentTo | Intramedullary non-dysraphic spinal cord lipoma | A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura. | MONDO:0001790|MONDO:8000034|MONDO:8000030 |
-| MONDO:0958076 | myeloschisis | Orphanet:645398 | MONDO:equivalentTo | Myeloschisis | A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation. | MONDO:8000034|MONDO:8000030|MONDO:0017062 |
-| MONDO:0958077 | collagen vi-related congenital muscular dystrophy | Orphanet:646098 | MONDO:equivalentTo | Collagen VI-related congenital muscular dystrophy | | MONDO:8000033|MONDO:0019950 |
-| MONDO:0958082 | slc40a1-related hemochromatosis | Orphanet:647834 | MONDO:equivalentTo | SLC40A1-related hemochromatosis | A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. | MONDO:8000034|MONDO:0000001 |
-| MONDO:0958085 | digenic hemochromatosis | Orphanet:648581 | MONDO:equivalentTo | Digenic hemochromatosis | A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. | MONDO:8000034|MONDO:0016363|MONDO:0000001 |
-| MONDO:0958092 | periodic fever-immunodeficiency-thrombocytopenia syndrome | Orphanet:652522 | MONDO:equivalentTo | Periodic fever-immunodeficiency-thrombocytopenia syndrome | | MONDO:0018795|MONDO:8000034|MONDO:0000001|MONDO:0017953|MONDO:0017369 |
-| MONDO:0958093 | non-syndromic supernumerary kidneys | Orphanet:652528 | MONDO:equivalentTo | Non-syndromic supernumerary kidneys | | MONDO:0019720|MONDO:8000034|MONDO:8000030 |
-| MONDO:0958095 | nodal t-follicular helper cell lymphoma, follicular type | Orphanet:652650 | MONDO:equivalentTo | Nodal T-follicular helper cell lymphoma, follicular type | | MONDO:0015760|MONDO:8000034|MONDO:0000001 |
-| MONDO:0958096 | monomorphic epitheliotropic intestinal t-cell lymphoma | Orphanet:652658 | MONDO:equivalentTo | Monomorphic epitheliotropic intestinal T-cell lymphoma | | MONDO:8000034|MONDO:0018505|MONDO:0015760|MONDO:0000001 |
-| MONDO:0958097 | primary superior vena cava aneurysm | Orphanet:652668 | MONDO:equivalentTo | Primary superior vena cava aneurysm | | MONDO:0019829|MONDO:8000034|MONDO:8000032 |
-| MONDO:0958098 | primary inferior vena cava aneurysm | Orphanet:652678 | MONDO:equivalentTo | Primary inferior vena cava aneurysm | | MONDO:0019830|MONDO:8000034|MONDO:8000030 |
-| MONDO:0958099 | idiopathic subglottic stenosis | Orphanet:652681 | MONDO:equivalentTo | Idiopathic subglottic stenosis | | MONDO:0020017|MONDO:8000034|MONDO:0000001 |
-| MONDO:0958101 | lymphocytic mastitis | Orphanet:653698 | MONDO:equivalentTo | Lymphocytic mastitis | | MONDO:8000034|MONDO:0000001|MONDO:0015858 |
-| MONDO:0958104 | digenic alport syndrome | Orphanet:653722 | MONDO:equivalentTo | Digenic Alport syndrome | | MONDO:8000031|MONDO:0018965 |
-| MONDO:0958107 | x-linked combined immunodeficiency due to sash3 deficiency | Orphanet:653751 | MONDO:equivalentTo | X-linked combined immunodeficiency due to SASH3 deficiency | | MONDO:0018814|MONDO:0000001|MONDO:8000034 |
-| MONDO:0958108 | jansen-de vries syndrome | Orphanet:653767 | MONDO:equivalentTo | Jansen-de Vries syndrome | | MONDO:0000001|MONDO:8000034|MONDO:0035863|MONDO:0015159 |
-| MONDO:0958111 | pbx1-related congenital anomalies of kidney and urinary tract syndrome | Orphanet:656130 | MONDO:equivalentTo | PBX1-related congenital anomalies of kidney and urinary tract syndrome | | MONDO:0000001|MONDO:0035863|MONDO:0019721|MONDO:0015159|MONDO:8000034|MONDO:0019589 |
-| MONDO:0958113 | hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome | Orphanet:656273 | MONDO:equivalentTo | Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome | | MONDO:8000034|MONDO:0035862|MONDO:0015510|MONDO:0032013|MONDO:0015118|MONDO:0018497|MONDO:0018557 |
-| MONDO:0958122 | idiopathic small fibers neuropathy | Orphanet:658549 | MONDO:equivalentTo | Idiopathic small fibers neuropathy | | MONDO:8000034|MONDO:0000001|MONDO:0015923 |
-| MONDO:0958123 | isolated pulmonary artery sling | Orphanet:658574 | MONDO:equivalentTo | Isolated pulmonary artery sling | | MONDO:8000034|MONDO:0015239|MONDO:8000030 |
-| MONDO:0958125 | eyelid sebaceous carcinoma | Orphanet:658590 | MONDO:equivalentTo | Eyelid sebaceous carcinoma | | MONDO:8000034|MONDO:0000001|MONDO:0015121 |
-| MONDO:0958128 | non-transplant-related bronchiolitis obliterans | Orphanet:658612 | MONDO:equivalentTo | Non-transplant-related bronchiolitis obliterans | | MONDO:8000034|MONDO:0000001|MONDO:0015265 |
-| MONDO:0958129 | coq7-related distal hereditary motor neuropathy | Orphanet:658778 | MONDO:equivalentTo | COQ7-related distal hereditary motor neuropathy | | MONDO:8000034|MONDO:0000001|MONDO:0018151|MONDO:0015363 |
-| MONDO:0958130 | greig cephalopolysyndactyly-contiguous gene syndrome | Orphanet:658805 | MONDO:equivalentTo | Greig cephalopolysyndactyly-contiguous gene syndrome | | MONDO:0015161|MONDO:0017434|MONDO:0000001|MONDO:0016889|MONDO:8000034|MONDO:0043008|MONDO:0005308 |
-| MONDO:0958132 | methylenetetrahydrofolate dehydrogenase 1 deficiency | Orphanet:658813 | MONDO:equivalentTo | Methylenetetrahydrofolate dehydrogenase 1 deficiency | | MONDO:0020111|MONDO:8000034|MONDO:0000001|MONDO:0017313 |
-| MONDO:0958133 | developmental delay-ataxia-hypotonia-facial dysmorphism syndrome | Orphanet:658843 | MONDO:equivalentTo | Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome | | MONDO:0035863|MONDO:8000034|MONDO:0000001|MONDO:0015159 |
-| MONDO:0958137 | early-onset autoimmune disorder due to dock11 partial deficiency | Orphanet:658946 | MONDO:equivalentTo | Early-onset autoimmune disorder due to DOCK11 partial deficiency | | MONDO:0026166|MONDO:8000034|MONDO:0015709|MONDO:0000001|MONDO:0017956|MONDO:0019305 |
-| MONDO:0958138 | early-onset immune dysregulation due to dock11 complete deficiency | Orphanet:658951 | MONDO:equivalentTo | Early-onset immune dysregulation due to DOCK11 complete deficiency | | MONDO:0015710|MONDO:8000034|MONDO:0015940|MONDO:0000001|MONDO:0028795 |
-| MONDO:0958244 | rare inflammatory/autoimmune corneal disorder | Orphanet:519290 | MONDO:equivalentTo | Rare inflammatory/autoimmune corneal disorder | | MONDO:8000033 |
-| MONDO:0958245 | rare trochlear nerve disorder | Orphanet:519353 | MONDO:equivalentTo | Rare trochlear nerve disorder | | MONDO:8000033|MONDO:0034965 |
-| MONDO:0958246 | rare genetic optic nerve disorder | Orphanet:522512 | MONDO:equivalentTo | Rare genetic optic nerve disorder | | MONDO:8000033 |
-| MONDO:0958247 | rare genetic disorder with strabismus | Orphanet:522518 | MONDO:equivalentTo | Rare genetic disorder with strabismus | | MONDO:8000033 |
-| MONDO:0958248 | rare genetic neuromuscular disorder with ocular motility/alignment anomaly | Orphanet:522522 | MONDO:equivalentTo | Rare genetic neuromuscular disorder with ocular motility/alignment anomaly | | MONDO:8000033 |
-| MONDO:0958249 | rare genetic eyelid malposition disorder | Orphanet:522528 | MONDO:equivalentTo | Rare genetic eyelid malposition disorder | | MONDO:8000033 |
-| MONDO:0958250 | lacrimal drainage system anomaly of genetic origin | Orphanet:522534 | MONDO:equivalentTo | Lacrimal drainage system anomaly of genetic origin | | MONDO:8000033|MONDO:0026186 |
-| MONDO:0958251 | syndromic genetic cataract | Orphanet:522548 | MONDO:equivalentTo | Syndromic genetic cataract | | MONDO:8000033 |
-| MONDO:0958252 | syndromic genetic ectopia lentis | Orphanet:522554 | MONDO:equivalentTo | Syndromic genetic ectopia lentis | | MONDO:8000033 |
-| MONDO:0958253 | genetic corneal dystrophy | Orphanet:522560 | MONDO:equivalentTo | Genetic corneal dystrophy | | MONDO:8000033 |
-| MONDO:0958254 | syndromic genetic keratoconus | Orphanet:522564 | MONDO:equivalentTo | Syndromic genetic keratoconus | | MONDO:8000033 |
-| MONDO:0958255 | rare genetic inflammatory/autoimmune corneal disorder | Orphanet:522566 | MONDO:equivalentTo | Rare genetic inflammatory/autoimmune corneal disorder | | MONDO:8000033 |
-| MONDO:0958256 | pass syndrome | Orphanet:641385 | MONDO:equivalentTo | PASS syndrome | | MONDO:8000034|MONDO:0000001 |
-| MONDO:0958257 | psapash syndrome | Orphanet:641390 | MONDO:equivalentTo | PsAPASH syndrome | | MONDO:0000001|MONDO:8000034 |
-| MONDO:0958258 | cushing syndrome due to cortisol-producing adrenocortical adenoma | Orphanet:642788 | MONDO:equivalentTo | Cushing syndrome due to cortisol-producing adrenocortical adenoma | | MONDO:0020529|MONDO:8000034|MONDO:0000001 |
-| MONDO:0958259 | dysraphism with stalk | Orphanet:645193 | MONDO:equivalentTo | Dysraphism with stalk | A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements. | MONDO:0000859|MONDO:8000033 |
-| MONDO:0958260 | dysraphic spinal cord lipoma | Orphanet:645273 | MONDO:equivalentTo | Dysraphic spinal cord lipoma | A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect. | MONDO:0001790|MONDO:0000859|MONDO:8000033 |
-| MONDO:0958261 | fibrolipomatous filum anomaly | Orphanet:645279 | MONDO:equivalentTo | Fibrolipomatous filum anomaly | A rare group of malformation characterized by the infiltration of fibrous-fatty tissue in the filum terminale with resultant thickening. The tip of the conus can be normal (pointed) or abnormal (blunted). | MONDO:8000033 |
-| MONDO:0958262 | isolated primary pigmented nodular adrenocortical disease | Orphanet:647772 | MONDO:equivalentTo | Isolated primary pigmented nodular adrenocortical disease | | MONDO:8000034|MONDO:0000001 |
-| MONDO:0958263 | isolated micronodular adrenocortical disease | Orphanet:647782 | MONDO:equivalentTo | Isolated micronodular adrenocortical disease | | MONDO:8000034|MONDO:0000001 |
-| MONDO:0958264 | infectious scleritis | Orphanet:648665 | MONDO:equivalentTo | Infectious scleritis | | MONDO:8000034|MONDO:0000001 |
-| MONDO:0958265 | idiopathic scleritis | Orphanet:648675 | MONDO:equivalentTo | Idiopathic scleritis | | MONDO:8000034|MONDO:0000001 |
-| MONDO:0958266 | immune-mediated scleritis | Orphanet:648681 | MONDO:equivalentTo | Immune-mediated scleritis | | MONDO:8000034|MONDO:0000001 |
-| MONDO:0958267 | non-syndromic bridging bronchus | Orphanet:648992 | MONDO:equivalentTo | Non-syndromic bridging bronchus | | MONDO:8000034|MONDO:8000030 |
-| MONDO:0958268 | non-syndromic congenital bronchial atresia | Orphanet:649010 | MONDO:equivalentTo | Non-syndromic congenital bronchial atresia | | MONDO:8000034|MONDO:8000030 |
-| MONDO:0958269 | isolated left bronchial isomerism | Orphanet:649029 | MONDO:equivalentTo | Isolated left bronchial isomerism | | MONDO:8000034|MONDO:8000030 |
-| MONDO:0958270 | central precocious puberty in male | Orphanet:649929 | MONDO:equivalentTo | Central precocious puberty in male | | MONDO:0019165|MONDO:8000033 |
-| MONDO:0958271 | rare central precocious puberty in female | Orphanet:650070 | MONDO:equivalentTo | Rare central precocious puberty in female | | MONDO:0019165|MONDO:8000033|MONDO:0018561 |
-| MONDO:0958272 | genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa | Orphanet:652510 | MONDO:equivalentTo | Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa | | MONDO:8000033 |
-| MONDO:0958273 | cleft palate-congenital heart defect-intellectual disability syndrome due to meis2 mutation | Orphanet:652514 | MONDO:equivalentTo | Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation | | MONDO:0958091|MONDO:8000031 |
-| MONDO:0958274 | benign atrophic papulosis | Orphanet:656085 | MONDO:equivalentTo | Benign atrophic papulosis | | MONDO:0958110|MONDO:8000031 |
-| MONDO:0958275 | segmental spinal dysgenesis | Orphanet:656126 | MONDO:equivalentTo | Segmental spinal dysgenesis | | MONDO:0000859|MONDO:8000034|MONDO:0000001|MONDO:0017085 |
\ No newline at end of file
+| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents |
+|:--------------|:----------------------------------------------------|:---------------------|:---------------------------|:----------------------------------------------------|:--------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:--------------------------------------------------------|
+| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % |
+| MONDO:0958337 | disorder with optic nerve compression | Orphanet:519337 | MONDO:equivalentTo | Disorder with optic nerve compression | | MONDO:8000033 |
+| MONDO:0958338 | congenital optic disc excavation of genetic origin | Orphanet:522514 | MONDO:equivalentTo | Congenital optic disc excavation of genetic origin | | MONDO:8000033|MONDO:0026186 |
+| MONDO:0958339 | syndromic genetic disorder with strabismus | Orphanet:522520 | MONDO:equivalentTo | Syndromic genetic disorder with strabismus | | MONDO:8000033 |
+| MONDO:0958340 | rare genetic disorder with entropion | Orphanet:522530 | MONDO:equivalentTo | Rare genetic disorder with entropion | | MONDO:8000033 |
+| MONDO:0958341 | genetic superficial corneal dystrophy | Orphanet:522562 | MONDO:equivalentTo | Genetic superficial corneal dystrophy | | MONDO:8000033 |
+| MONDO:0958342 | isolated optic nerve aplasia | Orphanet:637064 | MONDO:equivalentTo | Isolated optic nerve aplasia | A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations. | MONDO:0026186|MONDO:0020145|MONDO:8000034|MONDO:8000030 |
+| MONDO:0958343 | papash syndrome | Orphanet:641380 | MONDO:equivalentTo | PAPASH syndrome | | MONDO:0000001|MONDO:8000034 |
+| MONDO:0958344 | spinal dermal sinus | Orphanet:645188 | MONDO:equivalentTo | Spinal dermal sinus | A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery. | MONDO:0958259|MONDO:8000034|MONDO:8000030 |
+| MONDO:0958345 | limited dorsal myeloschisis | Orphanet:645196 | MONDO:equivalentTo | Limited dorsal myeloschisis | A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. | MONDO:0958259|MONDO:8000033 |
+| MONDO:0958346 | isolated transitional filum lipoma | Orphanet:645322 | MONDO:equivalentTo | Isolated transitional filum lipoma | A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. | MONDO:8000034|MONDO:8000030 |
+| MONDO:0958347 | isolated filum lipoma | Orphanet:645325 | MONDO:equivalentTo | Isolated filum lipoma | A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation. | MONDO:8000034|MONDO:8000030 |
+| MONDO:0958348 | retained medullary cord | Orphanet:645334 | MONDO:equivalentTo | Retained medullary cord | A rare closed dysraphism with terminal stalk characterized by persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. | MONDO:0958259|MONDO:8000034|MONDO:8000030 |
+| MONDO:0958349 | dorsal spinal cord lipoma | Orphanet:645362 | MONDO:equivalentTo | Dorsal spinal cord lipoma | A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities. | MONDO:0958260|MONDO:8000034|MONDO:8000030 |
+| MONDO:0958350 | conus spinal cord lipoma | Orphanet:645367 | MONDO:equivalentTo | Conus spinal cord lipoma | A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus. | MONDO:0958260|MONDO:8000033 |
+| MONDO:0958351 | hemi-myeloschisis | Orphanet:645393 | MONDO:equivalentTo | Hemi-myeloschisis | A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis. | MONDO:0958076|MONDO:8000031 |
+| MONDO:0958352 | true myeloschisis | Orphanet:645401 | MONDO:equivalentTo | True myeloschisis | A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation). | MONDO:0958076|MONDO:8000031 |
+| MONDO:0958353 | intermediate collagen vi-related muscular dystrophy | Orphanet:646113 | MONDO:equivalentTo | Intermediate collagen VI-related muscular dystrophy | | MONDO:8000034|MONDO:0958077|MONDO:0000001 |
+| MONDO:0958354 | genetic central precocious puberty in female | Orphanet:650077 | MONDO:equivalentTo | Genetic central precocious puberty in female | | MONDO:8000034|MONDO:0000001 |
+| MONDO:0958355 | secondary central precocious puberty in female | Orphanet:650082 | MONDO:equivalentTo | Secondary central precocious puberty in female | | MONDO:0000001|MONDO:8000034 |
+| MONDO:0958356 | primary central precocious puberty in male | Orphanet:650087 | MONDO:equivalentTo | Primary central precocious puberty in male | | MONDO:8000034|MONDO:0000001|MONDO:0958270 |
+| MONDO:0958357 | secondary central precocious puberty in male | Orphanet:650092 | MONDO:equivalentTo | Secondary central precocious puberty in male | | MONDO:0958270|MONDO:8000034|MONDO:0000001 |
\ No newline at end of file
diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md
index 0de9333d..70f1f2a7 100644
--- a/docs/reports/unmapped.md
+++ b/docs/reports/unmapped.md
@@ -4,10 +4,10 @@
| [ICD10WHO](./unmapped_icd10who.md) | 12,542 | 0 | 0 | 0 | 12,542 | 18 | 12,524 | 99.9% |
| [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,161 | 79,234 | 98.6% |
| [NCIT](./unmapped_ncit.md) | 187,170 | 166,382 | 5,166 | 5,154 | 15,622 | 3,686 | 11,936 | 76.4% |
-| [DOID](./unmapped_doid.md) | 13,992 | 2,646 | 2,481 | 2,468 | 11,344 | 11,084 | 260 | 2.3% |
| [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% |
-| [ORDO](./unmapped_ordo.md) | 15,402 | 6,188 | 1,391 | 1,167 | 9,214 | 9,061 | 153 | 1.7% |
-| [OMIM](./unmapped_omim.md) | 29,252 | 19,208 | 1,360 | 1,316 | 8,685 | 8,657 | 28 | 0.3% |
+| [ORDO](./unmapped_ordo.md) | 15,402 | 6,207 | 1,391 | 1,166 | 9,195 | 9,107 | 88 | 1.0% |
+| [DOID](./unmapped_doid.md) | 14,019 | 2,654 | 2,482 | 2,468 | 11,363 | 11,323 | 40 | 0.4% |
+| [OMIM](./unmapped_omim.md) | 29,281 | 19,220 | 1,362 | 1,316 | 8,700 | 8,681 | 19 | 0.2% |
`Ontology`: Name of ontology
`Tot terms`: Total terms in ontology
diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md
index d1e49756..34bc7f3d 100644
--- a/docs/reports/unmapped_doid.md
+++ b/docs/reports/unmapped_doid.md
@@ -2,265 +2,45 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/doid_mapping_status.tsv)
### Unmapped mappable terms _(!excluded, !deprecated)_
-| subject_id | subject_label |
-|:-------------|:----------------------------------------------------------------------------------------------------------|
-| DOID:0081412 | B acute lymphoblastic leukemia with DUX4 rearrangement |
-| DOID:0081411 | B acute lymphoblastic leukemia with PAX5 P80R mutation |
-| DOID:0081403 | BCOR ITD sarcoma |
-| DOID:0081404 | BCOR-CCNB3 sarcoma |
-| DOID:0070527 | Borrelia miyamotoi disease |
-| DOID:0081250 | CIC-rearranged sarcoma |
-| DOID:0081377 | COX deficiency, benign infantile mitochondrial myopathy |
-| DOID:0081394 | Caroli syndrome |
-| DOID:0081070 | EZB-MYC+ diffuse large B-cell lymphoma |
-| DOID:0081071 | EZB-MYC- diffuse large B-cell lymphoma |
-| DOID:2938 | Epstein-Barr virus infectious disease |
-| DOID:0081395 | Harel-Yoon syndrome |
-| DOID:0081370 | LADD syndrome |
-| DOID:0070484 | Legius syndrome |
-| DOID:0111503 | Li-Fraumeni syndrome 1 |
-| DOID:0070516 | Mitchell syndrome |
-| DOID:0070439 | North Carolina macular dystrophy |
-| DOID:0070526 | PLACK syndrome |
-| DOID:0070486 | Parkinson's disease 25 |
-| DOID:0070475 | SMARCB1-deficient renal medullary carcinoma |
-| DOID:0070509 | Schinzel Giedion syndrome |
-| DOID:0070529 | Sifrim-Hitz-Weiss syndrome |
-| DOID:0112103 | Sotos syndrome 1 |
-| DOID:0080817 | T2-high asthma |
-| DOID:0080818 | T2-low asthma |
-| DOID:0081386 | TANGO2-related metabolic encephalopathy and arrythmias |
-| DOID:0081415 | TFE3-rearranged renal cell carcinoma |
-| DOID:0081414 | TFEB-rearranged renal cell carcinoma |
-| DOID:0081397 | Vissers-Bodmer syndrome |
-| DOID:0070483 | Watson syndrome |
-| DOID:0080891 | YAP1-MAMLD1 fusion-positive supratentorial ependymoma |
-| DOID:0070468 | Yoon-Bellen neurodevelopmental syndrome |
-| DOID:0070473 | Zaki syndrome |
-| DOID:0080816 | adult-onset severe asthma |
-| DOID:0081378 | amyotrophic lateral sclerosis type 24 |
-| DOID:0081379 | amyotrophic lateral sclerosis type 25 |
-| DOID:0081380 | amyotrophic lateral sclerosis type 26 |
-| DOID:0081382 | amyotrophic lateral sclerosis type 28 |
-| DOID:0081418 | anaplastic sarcoma of the kidney |
-| DOID:0050640 | anauxetic dysplasia 1 |
-| DOID:0070532 | aniridia 1 |
-| DOID:0070535 | arrhythmogenic biventricular cardiomyopathy |
-| DOID:0070534 | arrhythmogenic left ventricular cardiomyopathy |
-| DOID:0081256 | astrocytoma, IDH-mutant, grade 2 |
-| DOID:0081257 | astrocytoma, IDH-mutant, grade 3 |
-| DOID:0080877 | astrocytoma, IDH-mutant, grade 4 |
-| DOID:0081383 | ataxia-oculomotor apraxia type 4 |
-| DOID:0081384 | ataxia-telangiectasia-like disorder-1 |
-| DOID:0081385 | ataxia-telangiectasia-like disorder-2 |
-| DOID:0070488 | atypical dopamine transporter deficiency syndrome |
-| DOID:0081399 | autosomal dominant distal hereditary motor neuronopathy 10 |
-| DOID:0081400 | autosomal dominant distal hereditary motor neuronopathy 11 |
-| DOID:0081401 | autosomal dominant distal hereditary motor neuronopathy 13 |
-| DOID:0081429 | autosomal recessive distal hereditary motor neuronopathy 10 |
-| DOID:0081425 | autosomal recessive distal hereditary motor neuronopathy 6 |
-| DOID:0081426 | autosomal recessive distal hereditary motor neuronopathy 7 |
-| DOID:0081427 | autosomal recessive distal hereditary motor neuronopathy 8 |
-| DOID:0081428 | autosomal recessive distal hereditary motor neuronopathy 9 |
-| DOID:0080602 | benign teratoma |
-| DOID:0070364 | bradyopsia 2 |
-| DOID:0070466 | carpal tunnel syndrome 1 |
-| DOID:0070467 | carpal tunnel syndrome 2 |
-| DOID:0070528 | cepacia syndrome |
-| DOID:0081416 | childhood renal cell carcinoma with MiT translocations |
-| DOID:0081407 | childhood round cell sarcoma with EWSR1-non-ETS fusion |
-| DOID:0081405 | childhood sarcoma with BCOR genetic alterations |
-| DOID:0081419 | childhood-onset dystonia with optic atrophy and basal ganglia abnormalities |
-| DOID:0070474 | childhood-onset neurodegeneration with brain atrophy |
-| DOID:0070515 | chromosome 16p11.2 deletion syndrome, 593-kb |
-| DOID:0070470 | chromosome 1p36.33 duplication syndrome |
-| DOID:0080748 | chronic inducible urticaria |
-| DOID:0080749 | chronic spontaneous urticaria |
-| DOID:0070489 | classic dopamine transporter deficiency syndrome |
-| DOID:0070424 | combined oxidative phosphorylation deficiency 44 |
-| DOID:0070425 | combined oxidative phosphorylation deficiency 52 |
-| DOID:0070426 | combined oxidative phosphorylation deficiency 53 |
-| DOID:0070427 | combined oxidative phosphorylation deficiency 54 |
-| DOID:0070428 | combined oxidative phosphorylation deficiency 55 |
-| DOID:0070429 | combined oxidative phosphorylation deficiency 56 |
-| DOID:0070430 | combined oxidative phosphorylation deficiency 57 |
-| DOID:0070257 | congenital disorder of glycosylation type IIe |
-| DOID:4668 | congenital kyphosis |
-| DOID:0081352 | congenital myopathy 20 |
-| DOID:0081353 | congenital myopathy 21 |
-| DOID:0081354 | congenital myopathy 22A |
-| DOID:0081355 | congenital myopathy 22B |
-| DOID:0081392 | corticobasal degeneration syndrome |
-| DOID:0060912 | craniosynostosis 7 |
-| DOID:0070376 | developmental and epileptic encephalopathy 31B |
-| DOID:0060933 | developmental delay, dysmorphic facies, and brain anomalies |
-| DOID:0060930 | developmental dysplasia of the hip |
-| DOID:0060931 | developmental dysplasia of the hip 1 |
-| DOID:0060932 | developmental dysplasia of the hip 2 |
-| DOID:0080763 | diffuse gastric cancer |
-| DOID:0080880 | diffuse glioma, H3 G34 mutant |
-| DOID:0080684 | diffuse midline glioma, H3 K27M-mutant |
-| DOID:0080578 | digenic disease |
-| DOID:0070476 | diphthamide deficiency syndrome |
-| DOID:0070477 | diphthamide deficiency syndrome 1 |
-| DOID:0070478 | diphthamide deficiency syndrome 2 |
-| DOID:0081373 | disabling pansclerotic morphea |
-| DOID:0070487 | dopamine transporter deficiency syndrome |
-| DOID:0070445 | early-onset dystonia and/or spastic paraplegia |
-| DOID:0070471 | early-onset epilepsy 2 |
-| DOID:0070472 | early-onset epilepsy 3 |
-| DOID:0070519 | early-onset vitamin B6-dependent epilepsy 4 |
-| DOID:0081359 | epidermolytic hyperkeratosis 2 |
-| DOID:0060917 | facioscapulohumeral muscular dystrophy 3 |
-| DOID:0060918 | facioscapulohumeral muscular dystrophy 4 |
-| DOID:0081420 | familial focal epilepsy with variable foci |
-| DOID:0081421 | familial focal epilepsy with variable foci 1 |
-| DOID:0081422 | familial focal epilepsy with variable foci 2 |
-| DOID:0081423 | familial focal epilepsy with variable foci 3 |
-| DOID:0081424 | familial focal epilepsy with variable foci 4 |
-| DOID:0070518 | familial multiple lipomatosis |
-| DOID:0070530 | foveal hypoplasia 1 |
-| DOID:0070531 | foveal hypoplasia 2 |
-| DOID:0080712 | gene duplication disease |
-| DOID:0070454 | hereditary spastic paraplegia 70 |
-| DOID:0070455 | hereditary spastic paraplegia 79A |
-| DOID:0070456 | hereditary spastic paraplegia 87 |
-| DOID:0070457 | hereditary spastic paraplegia 88 |
-| DOID:0070458 | hereditary spastic paraplegia 89 |
-| DOID:0070459 | hereditary spastic paraplegia 90A |
-| DOID:0070460 | hereditary spastic paraplegia 90B |
-| DOID:0081398 | holoprosencephaly 12 |
-| DOID:0070431 | hyperphosphatasia with impaired intellectual development syndrome |
-| DOID:0070433 | hyperphosphatasia with impaired intellectual development syndrome 1 |
-| DOID:0070434 | hyperphosphatasia with impaired intellectual development syndrome 2 |
-| DOID:0070435 | hyperphosphatasia with impaired intellectual development syndrome 3 |
-| DOID:0070436 | hyperphosphatasia with impaired intellectual development syndrome 4 |
-| DOID:0070432 | hyperphosphatasia with impaired intellectual development syndrome 5 |
-| DOID:0070437 | hyperphosphatasia with impaired intellectual development syndrome 6 |
-| DOID:0060935 | infantile hypotonia with psychomotor retardation and characteristic facies-3 |
-| DOID:0070490 | infantile parkinsonism-dystonia 2 |
-| DOID:0070510 | inflammatory poikiloderma with hair abnormalities and acral keratoses |
-| DOID:0081430 | intellectual developmental disorder with autistic features and language delay, with or without seizures |
-| DOID:0080812 | intermittent asthma |
-| DOID:0081381 | juvenile amyotrophic lateral sclerosis type 27 |
-| DOID:4667 | kyphosis |
-| DOID:0081371 | lacrimoauriculodentodigital syndrome 2 |
-| DOID:0081372 | lacrimoauriculodentodigital syndrome 3 |
-| DOID:0070373 | leukoencephalopathy with vanishing white matter 2 |
-| DOID:0070372 | leukoencephalopathy with vanishing white matter 3 |
-| DOID:0070371 | leukoencephalopathy with vanishing white matter 4 |
-| DOID:0070367 | leukoencephalopathy with vanishing white matter 5 |
-| DOID:0080894 | lipofibromatosis-like neural tumor |
-| DOID:0081389 | logopenic progressive aphasia |
-| DOID:0070533 | long QT syndrome 16 |
-| DOID:0110649 | long QT syndrome 8 |
-| DOID:0080704 | medulloblastoma SHH activated and TP53 mutant |
-| DOID:0080705 | medulloblastoma SHH activated and TP53 wild-type |
-| DOID:0080707 | medulloblastoma non-WNT/non-SHH group 3 |
-| DOID:0080708 | medulloblastoma non-WNT/non-SHH group 4 |
-| DOID:0070508 | metabolic dysfunction and alcohol associated liver disease |
-| DOID:0070446 | mitochondrial DNA depletion syndrome 16 |
-| DOID:0070447 | mitochondrial DNA depletion syndrome 16B |
-| DOID:0070448 | mitochondrial DNA depletion syndrome 17 |
-| DOID:0070449 | mitochondrial DNA depletion syndrome 18 |
-| DOID:0070450 | mitochondrial DNA depletion syndrome 19 |
-| DOID:0070451 | mitochondrial DNA depletion syndrome 20 |
-| DOID:0070491 | mitochondrial complex IV deficiency nuclear type 1 |
-| DOID:0070496 | mitochondrial complex IV deficiency nuclear type 10 |
-| DOID:0070497 | mitochondrial complex IV deficiency nuclear type 11 |
-| DOID:0070498 | mitochondrial complex IV deficiency nuclear type 12 |
-| DOID:0070499 | mitochondrial complex IV deficiency nuclear type 14 |
-| DOID:0070500 | mitochondrial complex IV deficiency nuclear type 15 |
-| DOID:0070501 | mitochondrial complex IV deficiency nuclear type 16 |
-| DOID:0070502 | mitochondrial complex IV deficiency nuclear type 17 |
-| DOID:0070503 | mitochondrial complex IV deficiency nuclear type 18 |
-| DOID:0070504 | mitochondrial complex IV deficiency nuclear type 19 |
-| DOID:0070505 | mitochondrial complex IV deficiency nuclear type 20 |
-| DOID:0070506 | mitochondrial complex IV deficiency nuclear type 21 |
-| DOID:0070507 | mitochondrial complex IV deficiency nuclear type 22 |
-| DOID:0070485 | mitochondrial complex IV deficiency nuclear type 23 |
-| DOID:0070492 | mitochondrial complex IV deficiency nuclear type 3 |
-| DOID:0070493 | mitochondrial complex IV deficiency nuclear type 4 |
-| DOID:0070494 | mitochondrial complex IV deficiency nuclear type 7 |
-| DOID:0070495 | mitochondrial complex IV deficiency nuclear type 8 |
-| DOID:0070461 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A |
-| DOID:0070462 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B |
-| DOID:0070463 | mitochondrial complex V (ATP synthase) deficiency nuclear type 5 |
-| DOID:0070464 | mitochondrial complex V (ATP synthase) deficiency nuclear type 7 |
-| DOID:0080823 | near-fatal asthma |
-| DOID:0081374 | nemaline myopathy 5B |
-| DOID:0081375 | nemaline myopathy 5C |
-| DOID:0081396 | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome |
-| DOID:0070443 | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
-| DOID:0070513 | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities |
-| DOID:0070514 | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
-| DOID:0070469 | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |
-| DOID:0070512 | neurodevelopmental disorder with hypotonia and speech delay |
-| DOID:0070536 | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures |
-| DOID:0070444 | neurodevelopmental disorder with language delay and seizures |
-| DOID:0060934 | neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy |
-| DOID:0081387 | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities |
-| DOID:0070479 | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties |
-| DOID:0070366 | nevoid basal cell carcinoma syndrome 2 |
-| DOID:0080826 | nocturnal asthma |
-| DOID:0060929 | non-syndromic X-linked intellectual developmental disorder 111 |
-| DOID:0081281 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 |
-| DOID:0081282 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 |
-| DOID:0081393 | organophosphate-induced delayed polyneuropathy |
-| DOID:0080400 | orofacial cleft 7 |
-| DOID:0060920 | otosclerosis 1 |
-| DOID:0060927 | otosclerosis 10 |
-| DOID:0060928 | otosclerosis 11 |
-| DOID:0060921 | otosclerosis 2 |
-| DOID:0060922 | otosclerosis 3 |
-| DOID:0060923 | otosclerosis 4 |
-| DOID:0060924 | otosclerosis 5 |
-| DOID:0060925 | otosclerosis 7 |
-| DOID:0060926 | otosclerosis 8 |
-| DOID:0070442 | paroxysmal nonkinesigenic dyskinesia 3 |
-| DOID:0070520 | peeling skin syndrome 1 |
-| DOID:0070521 | peeling skin syndrome 2 |
-| DOID:0070522 | peeling skin syndrome 3 |
-| DOID:0070523 | peeling skin syndrome 4 |
-| DOID:0070524 | peeling skin syndrome 5 |
-| DOID:0070525 | peeling skin syndrome 6 |
-| DOID:0080813 | persistent mild asthma |
-| DOID:0080814 | persistent moderate asthma |
-| DOID:0080824 | persistent severe asthma |
-| DOID:0080881 | pleomorphic xanthoastrocytoma BRAF mutant |
-| DOID:0070511 | polyhydramnios, megalencephaly, and symptomatic epilepsy |
-| DOID:0081417 | poorly differentiated chordoma |
-| DOID:0081254 | posterior fossa group A ependymoma |
-| DOID:0081255 | posterior fossa group B ependymoma |
-| DOID:9373 | postural kyphosis |
-| DOID:0081388 | primary progressive aphasia |
-| DOID:0070396 | progressive leukoencephalopathy with ovarian failure |
-| DOID:0081390 | progressive non-fluent aphasia |
-| DOID:0060916 | proteasome-associated autoinflammatory syndrome 3 |
-| DOID:0060913 | proteosome-associated autoinflammatory syndrome |
-| DOID:0060914 | proteosome-associated autoinflammatory syndrome 2 |
-| DOID:0060915 | proteosome-associated autoinflammatory syndrome 4 |
-| DOID:0060919 | proteosome-associated autoinflammatory syndrome 5 |
-| DOID:0081413 | renal cell carcinoma with MiT translocations |
-| DOID:0070438 | retinal macular dystrophy |
-| DOID:0070517 | retinal macular dystrophy 2 |
-| DOID:0070440 | retinal macular dystrophy 3 |
-| DOID:0070441 | retinal macular dystrophy 4 |
-| DOID:0081408 | round cell sarcoma with EWSR1-NFATC2 gene fusion |
-| DOID:0081409 | round cell sarcoma with EWSR1-PATZ1 gene fusion |
-| DOID:0081406 | round cell sarcoma with EWSR1-non-ETS fusion |
-| DOID:0081410 | round cell sarcoma with FUS-NFATC2 gene fusion |
-| DOID:0081402 | sarcoma with BCOR genetic alterations |
-| DOID:0070480 | schwannomatosis 1 |
-| DOID:0070481 | schwannomatosis 2 |
-| DOID:0081391 | semantic dementia |
-| DOID:0080897 | solitary fibrous tumor/hemangiopericytoma |
-| DOID:0070537 | spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
-| DOID:0070482 | spinal neurofibromatosis |
-| DOID:0070465 | spinocerebellar ataxia with axonal neuropathy type 3 |
-| DOID:0081253 | supratentorial ependymoma, YAP1 fusion–positive |
-| DOID:0081252 | supratentorial ependymoma, ZFTA fusion–positive |
-| DOID:0070538 | syndromic X-linked intellectual developmental disorder bain type |
-| DOID:0080856 | vascular Parkinsonism |
-| DOID:0070452 | xanthinuria type I |
-| DOID:0070453 | xanthinuria type II |
\ No newline at end of file
+| subject_id | subject_label |
+|:-------------|:--------------------------------------------------------------------------|
+| DOID:0081403 | BCOR ITD sarcoma |
+| DOID:0081404 | BCOR-CCNB3 sarcoma |
+| DOID:0070539 | Halperin-Birk syndrome |
+| DOID:0081441 | Nicolaides-Baraitser syndrome |
+| DOID:0081440 | Peroxisome biogenesis disorder 10B |
+| DOID:0081439 | Peroxisome biogenesis disorder 11B |
+| DOID:0081433 | Peroxisome biogenesis disorder 4B |
+| DOID:0081434 | Peroxisome biogenesis disorder 5B |
+| DOID:0081435 | Peroxisome biogenesis disorder 6B |
+| DOID:0081436 | Peroxisome biogenesis disorder 7B |
+| DOID:0081437 | Peroxisome biogenesis disorder 8B |
+| DOID:0081438 | Peroxisome biogenesis disorder 9B |
+| DOID:0081443 | Stolerman neurodevelopmental syndrome |
+| DOID:0081414 | TFEB-rearranged renal cell carcinoma |
+| DOID:0081442 | blepharophimosis-impaired intellectual development syndrome |
+| DOID:0081416 | childhood renal cell carcinoma with MiT translocations |
+| DOID:0081407 | childhood round cell sarcoma with EWSR1-non-ETS fusion |
+| DOID:0081405 | childhood sarcoma with BCOR genetic alterations |
+| DOID:2536 | chronic inflammatory demyelinating polyneuritis |
+| DOID:4668 | congenital kyphosis |
+| DOID:0060967 | dystonia 22, adult-onset |
+| DOID:0060966 | dystonia 22, juvenile-onset |
+| DOID:0060936 | dystonia 28 childhood-onset |
+| DOID:0060937 | dystonia 30 |
+| DOID:0060938 | dystonia 31 |
+| DOID:0060939 | dystonia 32 |
+| DOID:0060940 | dystonia 33 |
+| DOID:0060955 | dystonia 35, childhood-onset |
+| DOID:0060956 | dystonia 37, early-onset with striatal lesions |
+| DOID:0060963 | dystonia, DOPA-responsive |
+| DOID:0060944 | episodic kinesigenic dyskinesia 3 |
+| DOID:0081431 | microcephaly, short stature, and limb abnormalities |
+| DOID:0081432 | microcephaly-micromelia syndrome |
+| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
+| DOID:0060957 | myoclonic dystonia 34 |
+| DOID:0081444 | neurodevelopmental disorder with poor growth and behavioral abnormalities |
+| DOID:9373 | postural kyphosis |
+| DOID:0081408 | round cell sarcoma with EWSR1-NFATC2 gene fusion |
+| DOID:0081409 | round cell sarcoma with EWSR1-PATZ1 gene fusion |
+| DOID:0081410 | round cell sarcoma with FUS-NFATC2 gene fusion |
\ No newline at end of file
diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md
index 21ce9854..eb2a076c 100644
--- a/docs/reports/unmapped_omim.md
+++ b/docs/reports/unmapped_omim.md
@@ -2,33 +2,24 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/omim_mapping_status.tsv)
### Unmapped mappable terms _(!excluded, !deprecated)_
-| subject_id | subject_label |
-|:--------------|:------------------------------------------------------------------------------------------------------|
-| OMIMPS:602588 | Branchiootic syndrome |
-| OMIMPS:113650 | Branchiootorenal syndrome |
-| OMIMPS:151623 | Li-Fraumeni syndrome |
-| OMIMPS:144200 | Palmoplantar keratoderma, epidermolytic |
-| OMIM:620725 | bethlem myopathy 1b |
-| OMIM:620726 | bethlem myopathy 1c |
-| OMIM:620715 | bleeding disorder, vascular-type |
-| OMIM:620734 | cardiomyopathy, familial hypertrophic, 30, atrial |
-| OMIM:620722 | deafness, autosomal dominant 90 |
-| OMIM:620714 | deafness, autosomal recessive 122 |
-| OMIM:620745 | deafness, autosomal recessive 123 |
-| OMIM:620704 | encephalopathy, porphyria-related |
-| OMIM:620707 | epidermolytic hyperkeratosis 2b, autosomal recessive |
-| OMIM:620730 | hyperemesis gravidarum, susceptibility to |
-| OMIM:620729 | hyperferritinemia |
-| OMIM:620711 | leukoencephalopathy, porphyria-related |
-| OMIM:620698 | maple syrup urine disease, iia 1b |
-| OMIM:620699 | maple syrup urine disease, iia 2 |
-| OMIM:620748 | megalencephaly-polydactyly syndrome |
-| OMIM:620731 | microphthalmia/coloboma 11 |
-| OMIM:620732 | neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities |
-| OMIM:620746 | neurodevelopmental disorder with hypotonia and characteristic brain abnormalities |
-| OMIM:620719 | neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism |
-| OMIM:620718 | orofaciodigital syndrome 20 |
-| OMIM:620712 | polydactyly-macrocephaly syndrome |
-| OMIM:620744 | spermatogenic failure 90 |
-| OMIM:620727 | ullrich congenital muscular dystrophy 1b |
-| OMIM:620728 | ullrich congenital muscular dystrophy 1c |
\ No newline at end of file
+| subject_id | subject_label |
+|:--------------|:---------------------------------------------------------------------------------------|
+| OMIMPS:602588 | Branchiootic syndrome |
+| OMIMPS:113650 | Branchiootorenal syndrome |
+| OMIMPS:220150 | Hypouricemia, renal |
+| OMIMPS:151623 | Li-Fraumeni syndrome |
+| OMIMPS:144200 | Palmoplantar keratoderma, epidermolytic |
+| OMIM:620763 | corneal dystrophy, lisch epithelial |
+| OMIM:620780 | cutis laxa, autosomal recessive, type 1d |
+| OMIM:620772 | developmental and epileptic encephalopathy 113 |
+| OMIM:620774 | developmental and epileptic encephalopathy 114 |
+| OMIM:620755 | generalized epilepsy with febrile seizures plus, type 12 |
+| OMIM:301118 | intellectual developmental disorder, x-linked, syndromic 37 |
+| OMIM:620771 | jeffries-lakhani neurodevelopmental syndrome |
+| OMIM:620762 | macular dystrophy with or without cone dysfunction |
+| OMIM:620747 | neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities |
+| OMIM:620775 | neuromuscular disorder, congenital, with dysmorphic facies |
+| OMIM:620777 | pulmonary hypertension, primary, 6 |
+| OMIM:620767 | seckel syndrome 11 |
+| OMIM:620757 | thrombocytopenia 12 with or without myopathy |
+| OMIM:620776 | thrombocytopenia 13, syndromic |
\ No newline at end of file
diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md
index 4d307e8b..2f059a66 100644
--- a/docs/reports/unmapped_ordo.md
+++ b/docs/reports/unmapped_ordo.md
@@ -2,158 +2,93 @@
[Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/ordo_mapping_status.tsv)
### Unmapped mappable terms _(!excluded, !deprecated)_
-| subject_id | subject_label |
-|:----------------|:---------------------------------------------------------------------------------------------------|
-| Orphanet:409975 | 1-5 / 10 000 |
-| Orphanet:409976 | 1-9 / 1 000 000 |
-| Orphanet:409977 | 1-9 / 100 000 |
-| Orphanet:409978 | 6-9 / 10 000 |
-| Orphanet:409979 | <1 / 1 000 000 |
-| Orphanet:409980 | >1 / 1000 |
-| Orphanet:656085 | Benign atrophic papulosis |
-| Orphanet:658778 | COQ7-related distal hereditary motor neuropathy |
-| Orphanet:649929 | Central precocious puberty in male |
-| Orphanet:645285 | Chaotic conus spinal cord lipoma |
-| Orphanet:652514 | Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation |
-| Orphanet:646098 | Collagen VI-related congenital muscular dystrophy |
-| Orphanet:522514 | Congenital optic disc excavation of genetic origin |
-| Orphanet:645367 | Conus spinal cord lipoma |
-| Orphanet:642788 | Cushing syndrome due to cortisol-producing adrenocortical adenoma |
-| Orphanet:658843 | Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome |
-| Orphanet:653722 | Digenic Alport syndrome |
-| Orphanet:648581 | Digenic hemochromatosis |
-| Orphanet:519337 | Disorder with optic nerve compression |
-| Orphanet:645362 | Dorsal spinal cord lipoma |
-| Orphanet:645273 | Dysraphic spinal cord lipoma |
-| Orphanet:645193 | Dysraphism with stalk |
-| Orphanet:658946 | Early-onset autoimmune disorder due to DOCK11 partial deficiency |
-| Orphanet:658951 | Early-onset immune dysregulation due to DOCK11 complete deficiency |
-| Orphanet:645297 | Extramedullary conus spinal cord lipoma |
-| Orphanet:658590 | Eyelid sebaceous carcinoma |
-| Orphanet:645279 | Fibrolipomatous filum anomaly |
-| Orphanet:645310 | Fibroneural non-saccular limited dorsal myeloschisis |
-| Orphanet:652510 | Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa |
-| Orphanet:650077 | Genetic central precocious puberty in female |
-| Orphanet:650097 | Genetic central precocious puberty in male |
-| Orphanet:522560 | Genetic corneal dystrophy |
-| Orphanet:522562 | Genetic superficial corneal dystrophy |
-| Orphanet:658805 | Greig cephalopolysyndactyly-contiguous gene syndrome |
-| Orphanet:643538 | Hao-Fountain syndrome due to USP7 mutation |
-| Orphanet:645393 | Hemi-myeloschisis |
-| Orphanet:656273 | Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome |
-| Orphanet:648675 | Idiopathic scleritis |
-| Orphanet:658549 | Idiopathic small fibers neuropathy |
-| Orphanet:652681 | Idiopathic subglottic stenosis |
-| Orphanet:648681 | Immune-mediated scleritis |
-| Orphanet:648665 | Infectious scleritis |
-| Orphanet:646113 | Intermediate collagen VI-related muscular dystrophy |
-| Orphanet:645359 | Intramedullary non-dysraphic spinal cord lipoma |
-| Orphanet:645325 | Isolated filum lipoma |
-| Orphanet:649029 | Isolated left bronchial isomerism |
-| Orphanet:647782 | Isolated micronodular adrenocortical disease |
-| Orphanet:637064 | Isolated optic nerve aplasia |
-| Orphanet:647772 | Isolated primary pigmented nodular adrenocortical disease |
-| Orphanet:658574 | Isolated pulmonary artery sling |
-| Orphanet:645322 | Isolated transitional filum lipoma |
-| Orphanet:653767 | Jansen-de Vries syndrome |
-| Orphanet:522534 | Lacrimal drainage system anomaly of genetic origin |
-| Orphanet:645196 | Limited dorsal myeloschisis |
-| Orphanet:645300 | Lipomatous non-saccular limited dorsal myeloschisis |
-| Orphanet:653698 | Lymphocytic mastitis |
-| Orphanet:658813 | Methylenetetrahydrofolate dehydrogenase 1 deficiency |
-| Orphanet:652658 | Monomorphic epitheliotropic intestinal T-cell lymphoma |
-| Orphanet:645378 | Myelic limited dorsal malformation |
-| Orphanet:645398 | Myeloschisis |
-| Orphanet:652650 | Nodal T-follicular helper cell lymphoma, follicular type |
-| Orphanet:650102 | Non-genetic central precocious puberty in male |
-| Orphanet:645343 | Non-saccular limited dorsal myeloschisis |
-| Orphanet:648992 | Non-syndromic bridging bronchus |
-| Orphanet:649010 | Non-syndromic congenital bronchial atresia |
-| Orphanet:652528 | Non-syndromic supernumerary kidneys |
-| Orphanet:658612 | Non-transplant-related bronchiolitis obliterans |
-| Orphanet:645270 | Open spinal dysraphism with a posterior meningocele |
-| Orphanet:641380 | PAPASH syndrome |
-| Orphanet:641385 | PASS syndrome |
-| Orphanet:656130 | PBX1-related congenital anomalies of kidney and urinary tract syndrome |
-| Orphanet:652522 | Periodic fever-immunodeficiency-thrombocytopenia syndrome |
-| Orphanet:645294 | Posterior extramedullary conus spinal cord lipoma |
-| Orphanet:650087 | Primary central precocious puberty in male |
-| Orphanet:652678 | Primary inferior vena cava aneurysm |
-| Orphanet:652668 | Primary superior vena cava aneurysm |
-| Orphanet:641390 | PsAPASH syndrome |
-| Orphanet:650070 | Rare central precocious puberty in female |
-| Orphanet:522530 | Rare genetic disorder with entropion |
-| Orphanet:522518 | Rare genetic disorder with strabismus |
-| Orphanet:522528 | Rare genetic eyelid malposition disorder |
-| Orphanet:522566 | Rare genetic inflammatory/autoimmune corneal disorder |
-| Orphanet:522522 | Rare genetic neuromuscular disorder with ocular motility/alignment anomaly |
-| Orphanet:522512 | Rare genetic optic nerve disorder |
-| Orphanet:519290 | Rare inflammatory/autoimmune corneal disorder |
-| Orphanet:519353 | Rare trochlear nerve disorder |
-| Orphanet:645334 | Retained medullary cord |
-| Orphanet:647834 | SLC40A1-related hemochromatosis |
-| Orphanet:645354 | Saccular limited dorsal myeloschisis |
-| Orphanet:645319 | Saccular spinal dysraphism with a stalk to the dome |
-| Orphanet:650082 | Secondary central precocious puberty in female |
-| Orphanet:650092 | Secondary central precocious puberty in male |
-| Orphanet:656126 | Segmental spinal dysgenesis |
-| Orphanet:645188 | Spinal dermal sinus |
-| Orphanet:519321 | Syndromic chorioretinal dystrophy |
-| Orphanet:522548 | Syndromic genetic cataract |
-| Orphanet:522520 | Syndromic genetic disorder with strabismus |
-| Orphanet:522554 | Syndromic genetic ectopia lentis |
-| Orphanet:522564 | Syndromic genetic keratoconus |
-| Orphanet:645288 | Terminal extramedullary conus spinal cord lipoma |
-| Orphanet:645337 | Terminal myelocystocele |
-| Orphanet:645291 | Transitional extramedullary conus spinal cord lipoma |
-| Orphanet:645401 | True myeloschisis |
-| Orphanet:324953 | Unclassified autoinflammatory syndrome of childhood |
-| Orphanet:324960 | Unexplained periodic fever syndrome of childhood |
-| Orphanet:409981 | Unknown_epidemiological_range |
-| Orphanet:653751 | X-linked combined immunodeficiency due to SASH3 deficiency |
-| Orphanet:409934 | X-linked dominant |
-| Orphanet:409932 | X-linked recessive |
-| Orphanet:409938 | Y-linked |
-| Orphanet:409947 | adolescent |
-| Orphanet:409948 | adult |
-| Orphanet:C023 | age of onset |
-| Orphanet:409950 | all ages |
-| Orphanet:409967 | annual incidence |
-| Orphanet:409943 | antenatal |
-| Orphanet:409929 | autosomal dominant |
-| Orphanet:409930 | autosomal recessive |
-| Orphanet:409968 | birth prevalence |
-| Orphanet:409973 | case |
-| Orphanet:409970 | cases/families |
-| Orphanet:557495 | category |
-| Orphanet:409946 | childhood |
-| Orphanet:377794 | clinical group |
-| Orphanet:377796 | clinical subtype |
-| Orphanet:409949 | elderly |
-| Orphanet:C003 | epidemiology |
-| Orphanet:377795 | etiological subtype |
-| Orphanet:409974 | family |
-| Orphanet:C009 | geography |
-| Orphanet:C032 | has_annual_incidence_average_value |
-| Orphanet:C020 | has_annual_incidence_range |
-| Orphanet:C029 | has_birth_prevalence_average_value |
-| Orphanet:C026 | has_birth_prevalence_range |
-| Orphanet:C024 | has_cases/families_value |
-| Orphanet:C030 | has_lifetime_prevalence_average_value |
-| Orphanet:C027 | has_lifetime_prevalence_range |
-| Orphanet:C028 | has_point_prevalence_average_value |
-| Orphanet:C025 | has_point_prevalence_range |
-| Orphanet:377797 | histopathological subtype |
-| Orphanet:409945 | infancy |
-| Orphanet:C005 | inheritance |
-| Orphanet:409969 | lifetime prevalence |
-| Orphanet:409933 | mitochondrial |
-| Orphanet:409931 | multigenic/multifactorial |
-| Orphanet:409944 | neonatal |
-| Orphanet:409951 | no age of onset data available |
-| Orphanet:409940 | no inheritance data available |
-| Orphanet:409936 | oligogenic |
-| Orphanet:409966 | point prevalence |
-| Orphanet:C004 | prevalence |
-| Orphanet:409937 | semi-dominant |
-| Orphanet:409939 | unknown inheritance |
\ No newline at end of file
+| subject_id | subject_label |
+|:----------------|:-----------------------------------------------------|
+| Orphanet:409975 | 1-5 / 10 000 |
+| Orphanet:409976 | 1-9 / 1 000 000 |
+| Orphanet:409977 | 1-9 / 100 000 |
+| Orphanet:409978 | 6-9 / 10 000 |
+| Orphanet:409979 | <1 / 1 000 000 |
+| Orphanet:409980 | >1 / 1000 |
+| Orphanet:645285 | Chaotic conus spinal cord lipoma |
+| Orphanet:522514 | Congenital optic disc excavation of genetic origin |
+| Orphanet:645367 | Conus spinal cord lipoma |
+| Orphanet:519337 | Disorder with optic nerve compression |
+| Orphanet:645362 | Dorsal spinal cord lipoma |
+| Orphanet:645297 | Extramedullary conus spinal cord lipoma |
+| Orphanet:645310 | Fibroneural non-saccular limited dorsal myeloschisis |
+| Orphanet:650077 | Genetic central precocious puberty in female |
+| Orphanet:650097 | Genetic central precocious puberty in male |
+| Orphanet:522562 | Genetic superficial corneal dystrophy |
+| Orphanet:645393 | Hemi-myeloschisis |
+| Orphanet:646113 | Intermediate collagen VI-related muscular dystrophy |
+| Orphanet:645325 | Isolated filum lipoma |
+| Orphanet:637064 | Isolated optic nerve aplasia |
+| Orphanet:645322 | Isolated transitional filum lipoma |
+| Orphanet:645196 | Limited dorsal myeloschisis |
+| Orphanet:645300 | Lipomatous non-saccular limited dorsal myeloschisis |
+| Orphanet:645378 | Myelic limited dorsal malformation |
+| Orphanet:650102 | Non-genetic central precocious puberty in male |
+| Orphanet:645343 | Non-saccular limited dorsal myeloschisis |
+| Orphanet:641380 | PAPASH syndrome |
+| Orphanet:645294 | Posterior extramedullary conus spinal cord lipoma |
+| Orphanet:650087 | Primary central precocious puberty in male |
+| Orphanet:522530 | Rare genetic disorder with entropion |
+| Orphanet:645334 | Retained medullary cord |
+| Orphanet:645354 | Saccular limited dorsal myeloschisis |
+| Orphanet:645319 | Saccular spinal dysraphism with a stalk to the dome |
+| Orphanet:650082 | Secondary central precocious puberty in female |
+| Orphanet:650092 | Secondary central precocious puberty in male |
+| Orphanet:645188 | Spinal dermal sinus |
+| Orphanet:522520 | Syndromic genetic disorder with strabismus |
+| Orphanet:645288 | Terminal extramedullary conus spinal cord lipoma |
+| Orphanet:645337 | Terminal myelocystocele |
+| Orphanet:645291 | Transitional extramedullary conus spinal cord lipoma |
+| Orphanet:645401 | True myeloschisis |
+| Orphanet:409981 | Unknown_epidemiological_range |
+| Orphanet:409934 | X-linked dominant |
+| Orphanet:409932 | X-linked recessive |
+| Orphanet:409938 | Y-linked |
+| Orphanet:409947 | adolescent |
+| Orphanet:409948 | adult |
+| Orphanet:C023 | age of onset |
+| Orphanet:409950 | all ages |
+| Orphanet:409967 | annual incidence |
+| Orphanet:409943 | antenatal |
+| Orphanet:409929 | autosomal dominant |
+| Orphanet:409930 | autosomal recessive |
+| Orphanet:409968 | birth prevalence |
+| Orphanet:409973 | case |
+| Orphanet:409970 | cases/families |
+| Orphanet:557495 | category |
+| Orphanet:409946 | childhood |
+| Orphanet:377794 | clinical group |
+| Orphanet:377796 | clinical subtype |
+| Orphanet:409949 | elderly |
+| Orphanet:C003 | epidemiology |
+| Orphanet:377795 | etiological subtype |
+| Orphanet:409974 | family |
+| Orphanet:C009 | geography |
+| Orphanet:C032 | has_annual_incidence_average_value |
+| Orphanet:C020 | has_annual_incidence_range |
+| Orphanet:C029 | has_birth_prevalence_average_value |
+| Orphanet:C026 | has_birth_prevalence_range |
+| Orphanet:C024 | has_cases/families_value |
+| Orphanet:C030 | has_lifetime_prevalence_average_value |
+| Orphanet:C027 | has_lifetime_prevalence_range |
+| Orphanet:C028 | has_point_prevalence_average_value |
+| Orphanet:C025 | has_point_prevalence_range |
+| Orphanet:377797 | histopathological subtype |
+| Orphanet:409945 | infancy |
+| Orphanet:C005 | inheritance |
+| Orphanet:409969 | lifetime prevalence |
+| Orphanet:409933 | mitochondrial |
+| Orphanet:409931 | multigenic/multifactorial |
+| Orphanet:409944 | neonatal |
+| Orphanet:409951 | no age of onset data available |
+| Orphanet:409940 | no inheritance data available |
+| Orphanet:409936 | oligogenic |
+| Orphanet:409966 | point prevalence |
+| Orphanet:C004 | prevalence |
+| Orphanet:409937 | semi-dominant |
+| Orphanet:409939 | unknown inheritance |
\ No newline at end of file
diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv
index 8199a558..43977915 100644
--- a/src/mappings/gard.sssom.tsv
+++ b/src/mappings/gard.sssom.tsv
@@ -9,7 +9,7 @@
# skos: http://www.w3.org/2004/02/skos/core#
# sssom: https://w3id.org/sssom/
# license: https://w3id.org/sssom/license/unspecified
-# mapping_set_id: https://w3id.org/sssom/mappings/a2d27ac8-e35c-4370-a09d-803978eaa02f
+# mapping_set_id: https://w3id.org/sssom/mappings/a6a49dd3-d263-4023-adb5-eb6057c03012
subject_id subject_label predicate_id object_id mapping_justification
obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching
obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching
diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv
index f9621585..54a917be 100644
--- a/src/mappings/icd10cm.sssom.tsv
+++ b/src/mappings/icd10cm.sssom.tsv
@@ -6,6 +6,6 @@
# skos: http://www.w3.org/2004/02/skos/core#
# sssom: https://w3id.org/sssom/
# license: https://w3id.org/sssom/license/unspecified
-# mapping_set_id: https://w3id.org/sssom/mappings/c15beb32-c0a5-4a9f-bff3-337c52503878
+# mapping_set_id: https://w3id.org/sssom/mappings/c1276ca1-f39a-47a1-ab1a-c652c9f88f65
diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv
index 6f3808c5..e4f5e9bd 100644
--- a/src/mappings/icd10who.sssom.tsv
+++ b/src/mappings/icd10who.sssom.tsv
@@ -6,6 +6,6 @@
# skos: http://www.w3.org/2004/02/skos/core#
# sssom: https://w3id.org/sssom/
# license: https://w3id.org/sssom/license/unspecified
-# mapping_set_id: https://w3id.org/sssom/mappings/8e08c2db-8891-4a5e-990e-1a50b1b83041
+# mapping_set_id: https://w3id.org/sssom/mappings/be3bb43f-2160-4cf0-8c01-de98814aa37d
diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv
index 0244a79b..6d28151b 100644
--- a/src/mappings/ncit.sssom.tsv
+++ b/src/mappings/ncit.sssom.tsv
@@ -9,7 +9,7 @@
# skos: http://www.w3.org/2004/02/skos/core#
# sssom: https://w3id.org/sssom/
# license: https://w3id.org/sssom/license/unspecified
-# mapping_set_id: https://w3id.org/sssom/mappings/644cb230-28fb-4860-b973-21bd6950b861
+# mapping_set_id: https://w3id.org/sssom/mappings/776c758c-a5b6-4ad6-a7aa-cd5342ba3a40
subject_id subject_label predicate_id object_id mapping_justification
NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching
NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching
diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv
index a72845de..9968ef46 100644
--- a/src/mappings/omim.sssom.tsv
+++ b/src/mappings/omim.sssom.tsv
@@ -155,7 +155,6 @@ MONDO:0005260 skos:exactMatch OMIM:209850 autism semapv:UnspecifiedMatching
MONDO:0005265 skos:exactMatch omim.ps:266600 Inflammatory bowel disease semapv:UnspecifiedMatching
MONDO:0005298 skos:exactMatch OMIM:166710 osteoporosis semapv:UnspecifiedMatching
MONDO:0005321 skos:exactMatch omim.ps:136800 Corneal dystrophy, Fuchs endothelial semapv:UnspecifiedMatching
-MONDO:0005342 skos:exactMatch omim.ps:161950 IgA nephropathy semapv:UnspecifiedMatching
MONDO:0005345 skos:exactMatch omim.ps:300633 Hypospadias semapv:UnspecifiedMatching
MONDO:0005349 skos:exactMatch omim.ps:166800 Otosclerosis semapv:UnspecifiedMatching
MONDO:0005363 skos:exactMatch omim.ps:603278 Focal segmental glomerulosclerosis semapv:UnspecifiedMatching
@@ -381,7 +380,6 @@ MONDO:0007234 skos:exactMatch OMIM:113610 branchial myoclonus with spastic para
MONDO:0007235 skos:exactMatch OMIM:113620 branchiooculofacial syndrome semapv:UnspecifiedMatching
MONDO:0007236 skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:UnspecifiedMatching
MONDO:0007237 skos:exactMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:UnspecifiedMatching
-MONDO:0007239 skos:exactMatch OMIM:113800 epidermolytic hyperkeratosis 1 semapv:UnspecifiedMatching
MONDO:0007240 skos:exactMatch OMIM:113900 progressive familial heart block, type 1a semapv:UnspecifiedMatching
MONDO:0007241 skos:exactMatch OMIM:113950 bundle branch block, familial isolated complete right semapv:UnspecifiedMatching
MONDO:0007242 skos:exactMatch OMIM:113960 butyrylesterase 1 semapv:UnspecifiedMatching
@@ -779,7 +777,6 @@ MONDO:0007661 skos:exactMatch OMIM:137580 gilles lange 50a tourette syndrome se
MONDO:0007662 skos:exactMatch OMIM:137600 anterior segment dysgenesis 4 semapv:UnspecifiedMatching
MONDO:0007663 skos:exactMatch OMIM:137700 glaucoma with elevated episcleral venous pressure semapv:UnspecifiedMatching
MONDO:0007664 skos:exactMatch OMIM:137750 glaucoma 1, open angle, a semapv:UnspecifiedMatching
-MONDO:0007665 skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:UnspecifiedMatching
MONDO:0007666 skos:exactMatch OMIM:137763 glaucoma and sleep apnea semapv:UnspecifiedMatching
MONDO:0007668 skos:exactMatch OMIM:137900 globulin anomaly involving beta (2a)-globulin semapv:UnspecifiedMatching
MONDO:0007669 skos:exactMatch OMIM:137920 renal cysts and diabetes syndrome semapv:UnspecifiedMatching
@@ -2076,7 +2073,6 @@ MONDO:0009063 skos:exactMatch OMIM:219730 ventriculomegaly with cystic kidney d
MONDO:0009064 skos:exactMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:UnspecifiedMatching
MONDO:0009066 skos:exactMatch OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic type semapv:UnspecifiedMatching
MONDO:0009067 skos:exactMatch OMIM:220100 cystinuria semapv:UnspecifiedMatching
-MONDO:0009068 skos:exactMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear type 1 semapv:UnspecifiedMatching
MONDO:0009069 skos:exactMatch OMIM:220111 mitochondrial complex 4 deficiency, nuclear type 5 semapv:UnspecifiedMatching
MONDO:0009070 skos:exactMatch OMIM:220120 d-glyceric aciduria semapv:UnspecifiedMatching
MONDO:0009072 skos:exactMatch OMIM:220200 dandy-walker syndrome semapv:UnspecifiedMatching
@@ -2550,7 +2546,6 @@ MONDO:0009559 skos:exactMatch OMIM:248400 mandibulofacial dysostosis with menta
MONDO:0009560 skos:exactMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:UnspecifiedMatching
MONDO:0009561 skos:exactMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:UnspecifiedMatching
MONDO:0009562 skos:exactMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:UnspecifiedMatching
-MONDO:0009563 skos:exactMatch OMIM:248600 maple syrup urine disease, type 1a semapv:UnspecifiedMatching
MONDO:0009563 skos:exactMatch omim.ps:248600 Maple syrup urine disease semapv:UnspecifiedMatching
MONDO:0009564 skos:exactMatch OMIM:248700 marden-walker syndrome semapv:UnspecifiedMatching
MONDO:0009565 skos:exactMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:UnspecifiedMatching
@@ -7570,7 +7565,6 @@ MONDO:0014801 skos:exactMatch OMIM:616854 even-plus syndrome semapv:Unspecified
MONDO:0014802 skos:exactMatch OMIM:616858 cowden syndrome 7 semapv:UnspecifiedMatching
MONDO:0014803 skos:exactMatch OMIM:616859 spasticity, childhood-onset, with hyperglycinemia semapv:UnspecifiedMatching
MONDO:0014804 skos:exactMatch OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory semapv:UnspecifiedMatching
-MONDO:0014805 skos:exactMatch OMIM:616863 hao-fountain syndrome semapv:UnspecifiedMatching
MONDO:0014806 skos:exactMatch OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 semapv:UnspecifiedMatching
MONDO:0014807 skos:exactMatch OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 semapv:UnspecifiedMatching
MONDO:0014808 skos:exactMatch OMIM:616868 diarrhea 8, secretory sodium, congenital semapv:UnspecifiedMatching
@@ -8257,7 +8251,6 @@ MONDO:0021083 skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, cong
MONDO:0021093 skos:exactMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:UnspecifiedMatching
MONDO:0021094 skos:exactMatch omim.ps:300755 Immunodeficiency (select examples) semapv:UnspecifiedMatching
MONDO:0021105 skos:exactMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:UnspecifiedMatching
-MONDO:0021107 skos:exactMatch omim.ps:161400 Narcolepsy semapv:UnspecifiedMatching
MONDO:0021272 skos:exactMatch omim.ps:223360 Orthostatic hypotension semapv:UnspecifiedMatching
MONDO:0021533 skos:exactMatch OMIM:114900 carcinoid tumors, intestinal semapv:UnspecifiedMatching
MONDO:0021547 skos:exactMatch OMIM:617607 amelogenesis imperfecta, type 3b semapv:UnspecifiedMatching
@@ -8280,6 +8273,9 @@ MONDO:0023662 skos:exactMatch OMIM:619369 lymphatic malformation 10 semapv:Unsp
MONDO:0023664 skos:exactMatch OMIM:619379 spermatogenic failure 54 semapv:UnspecifiedMatching
MONDO:0023670 skos:exactMatch OMIM:619471 bardet-biedl syndrome 20 semapv:UnspecifiedMatching
MONDO:0023671 skos:exactMatch OMIM:619473 oculopharyngodistal myopathy 3 semapv:UnspecifiedMatching
+MONDO:0023691 skos:exactMatch OMIM:248600 maple syrup urine disease, type 1a semapv:UnspecifiedMatching
+MONDO:0023692 skos:exactMatch OMIM:620698 maple syrup urine disease, type 1b semapv:UnspecifiedMatching
+MONDO:0023693 skos:exactMatch OMIM:620699 maple syrup urine disease, type 2 semapv:UnspecifiedMatching
MONDO:0023807 skos:exactMatch OMIM:157200 midphalangeal hair semapv:UnspecifiedMatching
MONDO:0023873 skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching
MONDO:0023880 skos:exactMatch omim.ps:193670 WHIM syndrome semapv:UnspecifiedMatching
@@ -8740,7 +8736,7 @@ MONDO:0030902 skos:exactMatch OMIM:619170 mitochondrial complex 1 deficiency, n
MONDO:0030903 skos:exactMatch OMIM:619172 hermansky-pudlak syndrome 11 semapv:UnspecifiedMatching
MONDO:0030905 skos:exactMatch OMIM:619174 deafness, autosomal recessive 117 semapv:UnspecifiedMatching
MONDO:0030907 skos:exactMatch OMIM:300997 intellectual developmental disorder, X-linked 106 semapv:UnspecifiedMatching
-MONDO:0030908 skos:exactMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:UnspecifiedMatching
+MONDO:0030908 skos:exactMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic 35 semapv:UnspecifiedMatching
MONDO:0030909 skos:exactMatch OMIM:301008 intellectual developmental disorder, x-linked, syndromic, houge type semapv:UnspecifiedMatching
MONDO:0030910 skos:exactMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:UnspecifiedMatching
MONDO:0030911 skos:exactMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:UnspecifiedMatching
@@ -9803,6 +9799,9 @@ MONDO:0100526 skos:exactMatch omim.ps:604370 Breast-ovarian cancer, familial, s
MONDO:0100531 skos:exactMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:UnspecifiedMatching
MONDO:0100532 skos:exactMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:UnspecifiedMatching
MONDO:0100533 skos:exactMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:UnspecifiedMatching
+MONDO:0100553 skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:UnspecifiedMatching
+MONDO:0100554 skos:exactMatch omim.ps:161400 Narcolepsy semapv:UnspecifiedMatching
+MONDO:0100555 skos:exactMatch omim.ps:161950 IgA nephropathy semapv:UnspecifiedMatching
MONDO:0200001 skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching
MONDO:0600024 skos:exactMatch OMIM:160750 myositis semapv:UnspecifiedMatching
MONDO:0700039 skos:exactMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:UnspecifiedMatching
@@ -9815,6 +9814,10 @@ MONDO:0700090 skos:exactMatch OMIM:600512 epilepsy, familial temporal lobe, 1 s
MONDO:0700107 skos:exactMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:UnspecifiedMatching
MONDO:0700112 skos:exactMatch OMIM:270100 heterotaxy, visceral, 5, autosomal semapv:UnspecifiedMatching
MONDO:0700225 skos:exactMatch omim.ps:600803 Gallbladder disease semapv:UnspecifiedMatching
+MONDO:0700245 skos:exactMatch OMIM:620707 epidermolytic hyperkeratosis 2b, autosomal recessive semapv:UnspecifiedMatching
+MONDO:0700248 skos:exactMatch OMIM:620150 epidermolytic hyperkeratosis 2a, autosomal dominant semapv:UnspecifiedMatching
+MONDO:0700249 skos:exactMatch OMIM:113800 epidermolytic hyperkeratosis 1 semapv:UnspecifiedMatching
+MONDO:0700250 skos:exactMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear type 1 semapv:UnspecifiedMatching
MONDO:0800001 skos:exactMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:UnspecifiedMatching
MONDO:0800025 skos:exactMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:UnspecifiedMatching
MONDO:0800026 skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:UnspecifiedMatching
@@ -10296,6 +10299,7 @@ MONDO:0958030 skos:exactMatch OMIM:301115 immunodeficiency 118 semapv:Unspecifi
MONDO:0958034 skos:exactMatch OMIM:620683 lipodystrophy, familial partial, type 9 semapv:UnspecifiedMatching
MONDO:0958035 skos:exactMatch OMIM:620686 premature ovarian failure 23 semapv:UnspecifiedMatching
MONDO:0958037 skos:exactMatch OMIM:620690 developmental dysplasia of the hip 3 semapv:UnspecifiedMatching
+MONDO:0958071 skos:exactMatch OMIM:616863 hao-fountain syndrome semapv:UnspecifiedMatching
MONDO:0958174 skos:exactMatch OMIM:109400 basal cell nevus syndrome 1 semapv:UnspecifiedMatching
MONDO:0958175 skos:exactMatch OMIM:164210 craniofacial microsomia 1 semapv:UnspecifiedMatching
MONDO:0958176 skos:exactMatch OMIM:164300 oculopharyngeal muscular dystrophy 1 semapv:UnspecifiedMatching
@@ -10306,7 +10310,6 @@ MONDO:0958180 skos:exactMatch OMIM:608415 prolonged electroretinal response sup
MONDO:0958181 skos:exactMatch OMIM:609015 mitochondrial trifunctional protein deficiency 1 semapv:UnspecifiedMatching
MONDO:0958182 skos:exactMatch OMIM:613652 c1q deficiency 1 semapv:UnspecifiedMatching
MONDO:0958183 skos:exactMatch OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 semapv:UnspecifiedMatching
-MONDO:0958184 skos:exactMatch OMIM:620150 epidermolytic hyperkeratosis 2a, autosomal dominant semapv:UnspecifiedMatching
MONDO:0958185 skos:exactMatch OMIM:620300 mitochondrial trifunctional protein deficiency 2 semapv:UnspecifiedMatching
MONDO:0958186 skos:exactMatch OMIM:620320 hematuria, benign familial, 2 semapv:UnspecifiedMatching
MONDO:0958187 skos:exactMatch OMIM:620321 c1q deficiency 2 semapv:UnspecifiedMatching
@@ -10328,6 +10331,27 @@ MONDO:0958203 skos:exactMatch OMIM:620688 intellectual developmental disorder,
MONDO:0958204 skos:exactMatch OMIM:620700 intellectual developmental disorder, autosomal recessive 81 semapv:UnspecifiedMatching
MONDO:0958205 skos:exactMatch OMIM:620703 yuksel-vogel-bauer syndrome semapv:UnspecifiedMatching
MONDO:0958206 skos:exactMatch OMIM:620705 spermatogenic failure 89 semapv:UnspecifiedMatching
+MONDO:0958224 skos:exactMatch OMIM:620704 encephalopathy, porphyria-related semapv:UnspecifiedMatching
+MONDO:0958226 skos:exactMatch OMIM:620711 leukoencephalopathy, porphyria-related semapv:UnspecifiedMatching
+MONDO:0958227 skos:exactMatch OMIM:620712 polydactyly-macrocephaly syndrome semapv:UnspecifiedMatching
+MONDO:0958228 skos:exactMatch OMIM:620714 deafness, autosomal recessive 122 semapv:UnspecifiedMatching
+MONDO:0958229 skos:exactMatch OMIM:620715 bleeding disorder, vascular-type semapv:UnspecifiedMatching
+MONDO:0958230 skos:exactMatch OMIM:620718 orofaciodigital syndrome 20 semapv:UnspecifiedMatching
+MONDO:0958231 skos:exactMatch OMIM:620719 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism semapv:UnspecifiedMatching
+MONDO:0958232 skos:exactMatch OMIM:620722 deafness, autosomal dominant 90 semapv:UnspecifiedMatching
+MONDO:0958233 skos:exactMatch OMIM:620725 bethlem myopathy 1b semapv:UnspecifiedMatching
+MONDO:0958234 skos:exactMatch OMIM:620726 bethlem myopathy 1c semapv:UnspecifiedMatching
+MONDO:0958235 skos:exactMatch OMIM:620727 ullrich congenital muscular dystrophy 1b semapv:UnspecifiedMatching
+MONDO:0958236 skos:exactMatch OMIM:620728 ullrich congenital muscular dystrophy 1c semapv:UnspecifiedMatching
+MONDO:0958237 skos:exactMatch OMIM:620729 hyperferritinemia semapv:UnspecifiedMatching
+MONDO:0958238 skos:exactMatch OMIM:620730 hyperemesis gravidarum, susceptibility to semapv:UnspecifiedMatching
+MONDO:0958239 skos:exactMatch OMIM:620731 microphthalmia/coloboma 11 semapv:UnspecifiedMatching
+MONDO:0958240 skos:exactMatch OMIM:620732 neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities semapv:UnspecifiedMatching
+MONDO:0958241 skos:exactMatch OMIM:620734 cardiomyopathy, familial hypertrophic, 30, atrial semapv:UnspecifiedMatching
+MONDO:0958242 skos:exactMatch OMIM:620744 spermatogenic failure 90 semapv:UnspecifiedMatching
+MONDO:0958277 skos:exactMatch OMIM:620745 deafness, autosomal recessive 123 semapv:UnspecifiedMatching
+MONDO:0958278 skos:exactMatch OMIM:620746 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities semapv:UnspecifiedMatching
+MONDO:0958279 skos:exactMatch OMIM:620748 megalencephaly-polydactyly syndrome semapv:UnspecifiedMatching
MONDO:1030001 skos:exactMatch omim.ps:607631 Epilepsy, juvenile absence semapv:UnspecifiedMatching
MONDO:8000006 skos:exactMatch OMIM:193670 whim syndrome 1 semapv:UnspecifiedMatching
MONDO:8000008 skos:exactMatch OMIM:212720 martsolf syndrome 1 semapv:UnspecifiedMatching
@@ -11577,7 +11601,7 @@ OMIM:113730 UCP1 skos:exactMatch hgnc.symbol:12517 semapv:UnspecifiedMatching
OMIM:113730 UCP1 skos:exactMatch hgnc.symbol:UCP1 semapv:UnspecifiedMatching
OMIM:113730 UCP1 skos:exactMatch ncbigene:7350 semapv:UnspecifiedMatching
OMIM:113750 albinism, oculocutaneous, type 6 skos:exactMatch MONDO:0018264 semapv:UnspecifiedMatching
-OMIM:113800 epidermolytic hyperkeratosis 1 skos:exactMatch MONDO:0007239 semapv:UnspecifiedMatching
+OMIM:113800 epidermolytic hyperkeratosis 1 skos:exactMatch MONDO:0700249 semapv:UnspecifiedMatching
OMIM:113810 DST skos:exactMatch UMLS:C1539312 semapv:UnspecifiedMatching
OMIM:113810 DST skos:exactMatch UMLS:C3539003 semapv:UnspecifiedMatching
OMIM:113810 DST skos:exactMatch UMLS:C3809470 semapv:UnspecifiedMatching
@@ -14033,7 +14057,7 @@ OMIM:137580 gilles lange 50a tourette syndrome skos:exactMatch MONDO:0007661 se
OMIM:137600 anterior segment dysgenesis 4 skos:exactMatch MONDO:0007662 semapv:UnspecifiedMatching
OMIM:137700 glaucoma with elevated episcleral venous pressure skos:exactMatch MONDO:0007663 semapv:UnspecifiedMatching
OMIM:137750 glaucoma 1, open angle, a skos:exactMatch MONDO:0007664 semapv:UnspecifiedMatching
-OMIM:137760 glaucoma, primary open angle skos:exactMatch MONDO:0007665 semapv:UnspecifiedMatching
+OMIM:137760 glaucoma, primary open angle skos:exactMatch MONDO:0100553 semapv:UnspecifiedMatching
OMIM:137760 glaucoma, primary open angle skos:exactMatch UMLS:C0339573 semapv:UnspecifiedMatching
OMIM:137760 glaucoma, primary open angle skos:exactMatch UMLS:C1842026 semapv:UnspecifiedMatching
OMIM:137763 glaucoma and sleep apnea skos:exactMatch MONDO:0007666 semapv:UnspecifiedMatching
@@ -21390,7 +21414,7 @@ OMIM:219750 cystinosis, adult nonnephropathic skos:exactMatch MONDO:0009064 sem
OMIM:219800 cystinosis, nephropathic skos:exactMatch MONDO:0100151 semapv:UnspecifiedMatching
OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic type skos:exactMatch MONDO:0009066 semapv:UnspecifiedMatching
OMIM:220100 cystinuria skos:exactMatch MONDO:0009067 semapv:UnspecifiedMatching
-OMIM:220110 mitochondrial complex 4 deficiency, nuclear type 1 skos:exactMatch MONDO:0009068 semapv:UnspecifiedMatching
+OMIM:220110 mitochondrial complex 4 deficiency, nuclear type 1 skos:exactMatch MONDO:0700250 semapv:UnspecifiedMatching
OMIM:220110 mitochondrial complex 4 deficiency, nuclear type 1 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching
OMIM:220110 mitochondrial complex 4 deficiency, nuclear type 1 skos:exactMatch UMLS:C0268237 semapv:UnspecifiedMatching
OMIM:220110 mitochondrial complex 4 deficiency, nuclear type 1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching
@@ -22120,7 +22144,7 @@ OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:309288 se
OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:61 semapv:UnspecifiedMatching
OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch UMLS:C0024748 semapv:UnspecifiedMatching
OMIM:248510 mannosidosis, beta a, lysosomal skos:exactMatch MONDO:0009562 semapv:UnspecifiedMatching
-OMIM:248600 maple syrup urine disease, type 1a skos:exactMatch MONDO:0009563 semapv:UnspecifiedMatching
+OMIM:248600 maple syrup urine disease, type 1a skos:exactMatch MONDO:0023691 semapv:UnspecifiedMatching
OMIM:248610 DBT skos:exactMatch hgnc.symbol:2698 semapv:UnspecifiedMatching
OMIM:248610 DBT skos:exactMatch hgnc.symbol:DBT semapv:UnspecifiedMatching
OMIM:248610 DBT skos:exactMatch ncbigene:1629 semapv:UnspecifiedMatching
@@ -25634,7 +25658,7 @@ OMIM:300996 YIPF6 skos:exactMatch hgnc.symbol:28304 semapv:UnspecifiedMatching
OMIM:300996 YIPF6 skos:exactMatch hgnc.symbol:YIPF6 semapv:UnspecifiedMatching
OMIM:300996 YIPF6 skos:exactMatch ncbigene:286451 semapv:UnspecifiedMatching
OMIM:300997 intellectual developmental disorder, X-linked 106 skos:exactMatch MONDO:0030907 semapv:UnspecifiedMatching
-OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 skos:exactMatch MONDO:0030908 semapv:UnspecifiedMatching
+OMIM:300998 intellectual developmental disorder, x-linked, syndromic 35 skos:exactMatch MONDO:0030908 semapv:UnspecifiedMatching
OMIM:300999 FIRRE skos:exactMatch hgnc.symbol:49627 semapv:UnspecifiedMatching
OMIM:300999 FIRRE skos:exactMatch hgnc.symbol:FIRRE semapv:UnspecifiedMatching
OMIM:300999 FIRRE skos:exactMatch ncbigene:286467 semapv:UnspecifiedMatching
@@ -71469,7 +71493,7 @@ OMIM:616861 SLC12A9 skos:exactMatch ncbigene:56996 semapv:UnspecifiedMatching
OMIM:616862 RPL34 skos:exactMatch hgnc.symbol:10340 semapv:UnspecifiedMatching
OMIM:616862 RPL34 skos:exactMatch hgnc.symbol:RPL34 semapv:UnspecifiedMatching
OMIM:616862 RPL34 skos:exactMatch ncbigene:6164 semapv:UnspecifiedMatching
-OMIM:616863 hao-fountain syndrome skos:exactMatch MONDO:0014805 semapv:UnspecifiedMatching
+OMIM:616863 hao-fountain syndrome skos:exactMatch MONDO:0958071 semapv:UnspecifiedMatching
OMIM:616863 hao-fountain syndrome skos:exactMatch Orphanet:500055 semapv:UnspecifiedMatching
OMIM:616863 hao-fountain syndrome skos:exactMatch UMLS:C5393908 semapv:UnspecifiedMatching
OMIM:616864 HEXD skos:exactMatch hgnc.symbol:26307 semapv:UnspecifiedMatching
@@ -78985,7 +79009,7 @@ OMIM:620147 RBM46 skos:exactMatch hgnc.symbol:RBM46 semapv:UnspecifiedMatching
OMIM:620147 RBM46 skos:exactMatch ncbigene:166863 semapv:UnspecifiedMatching
OMIM:620148 ichthyosis, annular epidermolytic, 2 skos:exactMatch MONDO:0859574 semapv:UnspecifiedMatching
OMIM:620149 developmental and epileptic encephalopathy 110 skos:exactMatch MONDO:0859327 semapv:UnspecifiedMatching
-OMIM:620150 epidermolytic hyperkeratosis 2a, autosomal dominant skos:exactMatch MONDO:0958184 semapv:UnspecifiedMatching
+OMIM:620150 epidermolytic hyperkeratosis 2a, autosomal dominant skos:exactMatch MONDO:0700248 semapv:UnspecifiedMatching
OMIM:620151 wolman disease skos:exactMatch MONDO:0019148 semapv:UnspecifiedMatching
OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch MONDO:0859328 semapv:UnspecifiedMatching
OMIM:620153 mosaic variegated aneuploidy syndrome 4 skos:exactMatch MONDO:0859329 semapv:UnspecifiedMatching
@@ -80107,6 +80131,8 @@ OMIM:620696 RITA1 skos:exactMatch ncbigene:84934 semapv:UnspecifiedMatching
OMIM:620697 ZCCHC14 skos:exactMatch hgnc.symbol:24134 semapv:UnspecifiedMatching
OMIM:620697 ZCCHC14 skos:exactMatch hgnc.symbol:ZCCHC14 semapv:UnspecifiedMatching
OMIM:620697 ZCCHC14 skos:exactMatch ncbigene:23174 semapv:UnspecifiedMatching
+OMIM:620698 maple syrup urine disease, type 1b skos:exactMatch MONDO:0023692 semapv:UnspecifiedMatching
+OMIM:620699 maple syrup urine disease, type 2 skos:exactMatch MONDO:0023693 semapv:UnspecifiedMatching
OMIM:620700 intellectual developmental disorder, autosomal recessive 81 skos:exactMatch MONDO:0958204 semapv:UnspecifiedMatching
OMIM:620701 TTC36 skos:exactMatch hgnc.symbol:33708 semapv:UnspecifiedMatching
OMIM:620701 TTC36 skos:exactMatch hgnc.symbol:TTC36 semapv:UnspecifiedMatching
@@ -80115,10 +80141,12 @@ OMIM:620702 MCUB skos:exactMatch hgnc.symbol:26076 semapv:UnspecifiedMatching
OMIM:620702 MCUB skos:exactMatch hgnc.symbol:MCUB semapv:UnspecifiedMatching
OMIM:620702 MCUB skos:exactMatch ncbigene:55013 semapv:UnspecifiedMatching
OMIM:620703 yuksel-vogel-bauer syndrome skos:exactMatch MONDO:0958205 semapv:UnspecifiedMatching
+OMIM:620704 encephalopathy, porphyria-related skos:exactMatch MONDO:0958224 semapv:UnspecifiedMatching
OMIM:620705 spermatogenic failure 89 skos:exactMatch MONDO:0958206 semapv:UnspecifiedMatching
OMIM:620706 DBX2 skos:exactMatch hgnc.symbol:33186 semapv:UnspecifiedMatching
OMIM:620706 DBX2 skos:exactMatch hgnc.symbol:DBX2 semapv:UnspecifiedMatching
OMIM:620706 DBX2 skos:exactMatch ncbigene:440097 semapv:UnspecifiedMatching
+OMIM:620707 epidermolytic hyperkeratosis 2b, autosomal recessive skos:exactMatch MONDO:0700245 semapv:UnspecifiedMatching
OMIM:620708 LRRC23 skos:exactMatch hgnc.symbol:19138 semapv:UnspecifiedMatching
OMIM:620708 LRRC23 skos:exactMatch hgnc.symbol:LRRC23 semapv:UnspecifiedMatching
OMIM:620708 LRRC23 skos:exactMatch ncbigene:10233 semapv:UnspecifiedMatching
@@ -80128,29 +80156,45 @@ OMIM:620709 TPGS1 skos:exactMatch ncbigene:91978 semapv:UnspecifiedMatching
OMIM:620710 TPGS2 skos:exactMatch hgnc.symbol:24561 semapv:UnspecifiedMatching
OMIM:620710 TPGS2 skos:exactMatch hgnc.symbol:TPGS2 semapv:UnspecifiedMatching
OMIM:620710 TPGS2 skos:exactMatch ncbigene:25941 semapv:UnspecifiedMatching
+OMIM:620711 leukoencephalopathy, porphyria-related skos:exactMatch MONDO:0958226 semapv:UnspecifiedMatching
+OMIM:620712 polydactyly-macrocephaly syndrome skos:exactMatch MONDO:0958227 semapv:UnspecifiedMatching
OMIM:620713 MIX23 skos:exactMatch hgnc.symbol:31136 semapv:UnspecifiedMatching
OMIM:620713 MIX23 skos:exactMatch hgnc.symbol:MIX23 semapv:UnspecifiedMatching
OMIM:620713 MIX23 skos:exactMatch ncbigene:131076 semapv:UnspecifiedMatching
+OMIM:620714 deafness, autosomal recessive 122 skos:exactMatch MONDO:0958228 semapv:UnspecifiedMatching
+OMIM:620715 bleeding disorder, vascular-type skos:exactMatch MONDO:0958229 semapv:UnspecifiedMatching
OMIM:620716 DGLUCY skos:exactMatch hgnc.symbol:20498 semapv:UnspecifiedMatching
OMIM:620716 DGLUCY skos:exactMatch hgnc.symbol:DGLUCY semapv:UnspecifiedMatching
OMIM:620716 DGLUCY skos:exactMatch ncbigene:80017 semapv:UnspecifiedMatching
OMIM:620717 MTNAP1 skos:exactMatch hgnc.symbol:MTNAP1 semapv:UnspecifiedMatching
OMIM:620717 MTNAP1 skos:exactMatch ncbigene:55028 semapv:UnspecifiedMatching
+OMIM:620718 orofaciodigital syndrome 20 skos:exactMatch MONDO:0958230 semapv:UnspecifiedMatching
+OMIM:620719 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism skos:exactMatch MONDO:0958231 semapv:UnspecifiedMatching
OMIM:620720 ZNF549 skos:exactMatch hgnc.symbol:26632 semapv:UnspecifiedMatching
OMIM:620720 ZNF549 skos:exactMatch hgnc.symbol:ZNF549 semapv:UnspecifiedMatching
OMIM:620720 ZNF549 skos:exactMatch ncbigene:256051 semapv:UnspecifiedMatching
OMIM:620721 TMEM242 skos:exactMatch hgnc.symbol:17206 semapv:UnspecifiedMatching
OMIM:620721 TMEM242 skos:exactMatch hgnc.symbol:TMEM242 semapv:UnspecifiedMatching
OMIM:620721 TMEM242 skos:exactMatch ncbigene:729515 semapv:UnspecifiedMatching
+OMIM:620722 deafness, autosomal dominant 90 skos:exactMatch MONDO:0958232 semapv:UnspecifiedMatching
OMIM:620723 LINC02381 skos:exactMatch hgnc.symbol:53304 semapv:UnspecifiedMatching
OMIM:620723 LINC02381 skos:exactMatch hgnc.symbol:LINC02381 semapv:UnspecifiedMatching
OMIM:620723 LINC02381 skos:exactMatch ncbigene:400043 semapv:UnspecifiedMatching
OMIM:620724 ECHDC2 skos:exactMatch hgnc.symbol:23408 semapv:UnspecifiedMatching
OMIM:620724 ECHDC2 skos:exactMatch hgnc.symbol:ECHDC2 semapv:UnspecifiedMatching
OMIM:620724 ECHDC2 skos:exactMatch ncbigene:55268 semapv:UnspecifiedMatching
+OMIM:620725 bethlem myopathy 1b skos:exactMatch MONDO:0958233 semapv:UnspecifiedMatching
+OMIM:620726 bethlem myopathy 1c skos:exactMatch MONDO:0958234 semapv:UnspecifiedMatching
+OMIM:620727 ullrich congenital muscular dystrophy 1b skos:exactMatch MONDO:0958235 semapv:UnspecifiedMatching
+OMIM:620728 ullrich congenital muscular dystrophy 1c skos:exactMatch MONDO:0958236 semapv:UnspecifiedMatching
+OMIM:620729 hyperferritinemia skos:exactMatch MONDO:0958237 semapv:UnspecifiedMatching
+OMIM:620730 hyperemesis gravidarum, susceptibility to skos:exactMatch MONDO:0958238 semapv:UnspecifiedMatching
+OMIM:620731 microphthalmia/coloboma 11 skos:exactMatch MONDO:0958239 semapv:UnspecifiedMatching
+OMIM:620732 neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities skos:exactMatch MONDO:0958240 semapv:UnspecifiedMatching
OMIM:620733 MIR708 skos:exactMatch hgnc.symbol:33654 semapv:UnspecifiedMatching
OMIM:620733 MIR708 skos:exactMatch hgnc.symbol:MIR708 semapv:UnspecifiedMatching
OMIM:620733 MIR708 skos:exactMatch ncbigene:100126333 semapv:UnspecifiedMatching
+OMIM:620734 cardiomyopathy, familial hypertrophic, 30, atrial skos:exactMatch MONDO:0958241 semapv:UnspecifiedMatching
OMIM:620735 SDSL skos:exactMatch hgnc.symbol:30404 semapv:UnspecifiedMatching
OMIM:620735 SDSL skos:exactMatch hgnc.symbol:SDSL semapv:UnspecifiedMatching
OMIM:620735 SDSL skos:exactMatch ncbigene:113675 semapv:UnspecifiedMatching
@@ -80174,6 +80218,10 @@ OMIM:620742 IFT70B skos:exactMatch ncbigene:150737 semapv:UnspecifiedMatching
OMIM:620743 SDE2 skos:exactMatch hgnc.symbol:26643 semapv:UnspecifiedMatching
OMIM:620743 SDE2 skos:exactMatch hgnc.symbol:SDE2 semapv:UnspecifiedMatching
OMIM:620743 SDE2 skos:exactMatch ncbigene:163859 semapv:UnspecifiedMatching
+OMIM:620744 spermatogenic failure 90 skos:exactMatch MONDO:0958242 semapv:UnspecifiedMatching
+OMIM:620745 deafness, autosomal recessive 123 skos:exactMatch MONDO:0958277 semapv:UnspecifiedMatching
+OMIM:620746 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:exactMatch MONDO:0958278 semapv:UnspecifiedMatching
+OMIM:620748 megalencephaly-polydactyly syndrome skos:exactMatch MONDO:0958279 semapv:UnspecifiedMatching
OMIM:620749 ZNF438 skos:exactMatch hgnc.symbol:21029 semapv:UnspecifiedMatching
OMIM:620749 ZNF438 skos:exactMatch hgnc.symbol:ZNF438 semapv:UnspecifiedMatching
OMIM:620749 ZNF438 skos:exactMatch ncbigene:220929 semapv:UnspecifiedMatching
@@ -80225,6 +80273,9 @@ OMIM:620770 MTLN skos:exactMatch ncbigene:205251 semapv:UnspecifiedMatching
OMIM:620773 PROSER1 skos:exactMatch hgnc.symbol:20291 semapv:UnspecifiedMatching
OMIM:620773 PROSER1 skos:exactMatch hgnc.symbol:PROSER1 semapv:UnspecifiedMatching
OMIM:620773 PROSER1 skos:exactMatch ncbigene:80209 semapv:UnspecifiedMatching
+OMIM:620778 KIR3DS1 skos:exactMatch hgnc.symbol:6340 semapv:UnspecifiedMatching
+OMIM:620778 KIR3DS1 skos:exactMatch hgnc.symbol:KIR3DS1 semapv:UnspecifiedMatching
+OMIM:620778 KIR3DS1 skos:exactMatch ncbigene:3813 semapv:UnspecifiedMatching
omim.ps:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching
omim.ps:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching
omim.ps:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching
@@ -80363,9 +80414,9 @@ omim.ps:160565 Myopathy, tubular aggregate skos:exactMatch MONDO:0008051 semapv
omim.ps:160700 Myopia skos:exactMatch MONDO:0001384 semapv:UnspecifiedMatching
omim.ps:160900 Myotonic dystrophy skos:exactMatch MONDO:0016107 semapv:UnspecifiedMatching
omim.ps:161050 Nail disorder, nonsyndromic congenital skos:exactMatch MONDO:0019284 semapv:UnspecifiedMatching
-omim.ps:161400 Narcolepsy skos:exactMatch MONDO:0021107 semapv:UnspecifiedMatching
+omim.ps:161400 Narcolepsy skos:exactMatch MONDO:0100554 semapv:UnspecifiedMatching
omim.ps:161800 Nemaline myopathy skos:exactMatch MONDO:0018958 semapv:UnspecifiedMatching
-omim.ps:161950 IgA nephropathy skos:exactMatch MONDO:0005342 semapv:UnspecifiedMatching
+omim.ps:161950 IgA nephropathy skos:exactMatch MONDO:0100555 semapv:UnspecifiedMatching
omim.ps:162000 Tubulointerstitial kidney disease skos:exactMatch MONDO:0000608 semapv:UnspecifiedMatching
omim.ps:162091 Schwannomatosis skos:exactMatch MONDO:0008075 semapv:UnspecifiedMatching
omim.ps:162400 Hereditary sensory and autonomic neuropathy skos:exactMatch MONDO:0015364 semapv:UnspecifiedMatching
diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl
index d43abe79..0ffad871 100644
--- a/src/ontology/external/nord.robot.owl
+++ b/src/ontology/external/nord.robot.owl
@@ -8,7 +8,7 @@
xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#">
-
+
diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl
index bbe60c05..c131be39 100644
--- a/src/ontology/imports/omo_import.owl
+++ b/src/ontology/imports/omo_import.owl
@@ -7,9 +7,9 @@ Prefix(rdfs:=)
Ontology(
-
+
Annotation( )
-Annotation(owl:versionInfo "2024-03-15")
+Annotation(owl:versionInfo "2024-04-07")
Declaration(Class())
Declaration(Class())
diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl
index 4f498823..9a7f751e 100644
--- a/src/ontology/imports/ro_import.owl
+++ b/src/ontology/imports/ro_import.owl
@@ -7,9 +7,9 @@ Prefix(rdfs:=)
Ontology(
-
+
Annotation( )
-Annotation(owl:versionInfo "2024-03-15")
+Annotation(owl:versionInfo "2024-04-07")
Declaration(Class())
Declaration(Class())
diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md
index 4b076874..e1e9ceff 100644
--- a/src/ontology/lexmatch/README.md
+++ b/src/ontology/lexmatch/README.md
@@ -3,48 +3,47 @@
* mondo-only: Positive mappings in MONDO not caught by the lexical mapping pipeline
* split-mapping-set: Unmapped mappings broken down by predicate_id
## Summary of mappings:
- * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 218
- * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 132
+ * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 29
+ * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 9
* Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 38
* Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 38
- * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1934
- * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1532
+ * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1956
+ * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1553
* Number of mappings in [`unmapped_icd10cm_mondo`](mondo-only/unmapped_icd10cm_mondo.tsv): 3
* Number of mappings in [`unmapped_icd10cm_mondo_exact`](mondo-only/unmapped_icd10cm_mondo.tsv): 3
- * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1218
- * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 476
+ * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1224
+ * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 481
* Number of mappings in [`unmapped_icd10who_mondo`](mondo-only/unmapped_icd10who_mondo.tsv): 2
* Number of mappings in [`unmapped_icd10who_mondo_exact`](mondo-only/unmapped_icd10who_mondo.tsv): 2
- * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 83
- * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 40
+ * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 98
+ * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 42
* Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 26
* Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 23
- * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 4
- * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 2
- * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 115
- * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 115
+ * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 7
+ * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 5
+ * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 118
+ * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 118
* Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 1
* Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 1
- * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 902
- * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 902
+ * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 901
+ * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 901
## mondo_XXXXmatch_ontology
- * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 7
- * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 7
- * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1
- * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 13
- * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 254
- * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 1060
- * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 72
- * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 57
- * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1935
- * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6013
- * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 31
- * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 24
- * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1218
- * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147
- * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 110
- * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 901
- * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 42
- * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10
- * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 107
+ * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 150
+ * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 65
+ * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 8
+ * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 8
+ * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 7
+ * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 115
+ * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 9
+ * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 900
* Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 70
+ * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 122
+ * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10
+ * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147
+ * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1224
+ * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 25
+ * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30
+ * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6004
+ * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1957
+ * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 58
+ * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 69
diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv
index 1608dde9..d51f8bb9 100644
--- a/src/ontology/lexmatch/all_exact.robot.tsv
+++ b/src/ontology/lexmatch/all_exact.robot.tsv
@@ -403,6 +403,7 @@ MONDO:0800198 MONDO:equivalentTo ICD10CM:L63.1 alopecia universalis Alopecia uni
MONDO:0850231 MONDO:equivalentTo ICD10CM:L52 erythema nodosum Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum
MONDO:0850301 MONDO:equivalentTo ICD10CM:L12 pemphigoid Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid
MONDO:0859565 MONDO:equivalentTo ICD10CM:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect
+MONDO:0956980 MONDO:equivalentTo ICD10CM:G21.4 vascular parkinsonism Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism
MONDO:0958083 MONDO:equivalentTo ICD10CM:Q89.4 conjoined twins Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins
MONDO:0004520 MONDO:equivalentTo NCIT:C192096 intratubular embryonal carcinoma Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma
MONDO:0015301 MONDO:equivalentTo NCIT:C199391 primary cutaneous amyloidosis Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis
@@ -446,93 +447,40 @@ MONDO:0859598 MONDO:equivalentTo NCIT:C7152 erythroleukemia Erythroleukemia sema
MONDO:0859747 MONDO:equivalentTo NCIT:C7931 grade I lymphomatoid granulomatosis Grade I Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade i lymphomatoid granulomatosis
MONDO:0859748 MONDO:equivalentTo NCIT:C7932 grade II lymphomatoid granulomatosis Grade II Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade ii lymphomatoid granulomatosis
MONDO:0859749 MONDO:equivalentTo NCIT:C7933 grade III lymphomatoid granulomatosis Grade III Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade iii lymphomatoid granulomatosis
+MONDO:0956962 MONDO:equivalentTo NCIT:C67107 benign teratoma Benign Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign teratoma
+MONDO:0956981 MONDO:equivalentTo NCIT:C167335 astrocytoma, IDH-mutant, grade 4 Astrocytoma, IDH-Mutant, Grade 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade 4
+MONDO:0956989 MONDO:equivalentTo NCIT:C120224 CIC-rearranged sarcoma CIC-Rearranged Sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cic-rearranged sarcoma
+MONDO:0956994 MONDO:equivalentTo NCIT:C129271 astrocytoma, IDH-mutant, grade 2 Astrocytoma, IDH-Mutant, Grade 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade 2
+MONDO:0956995 MONDO:equivalentTo NCIT:C129290 astrocytoma, IDH-mutant, grade 3 Astrocytoma, IDH-Mutant, Grade 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade 3
+MONDO:0957196 MONDO:equivalentTo NCIT:C129309 diffuse midline glioma, H3 K27M-mutant Diffuse Midline Glioma, H3 K27M-Mutant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse midline glioma, h3 k27m-mutant
+MONDO:0958096 MONDO:equivalentTo NCIT:C96058 monomorphic epitheliotropic intestinal T-cell lymphoma Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monomorphic epitheliotropic intestinal t-cell lymphoma
MONDO:0958119 MONDO:equivalentTo NCIT:C186534 embryonal tumor with multilayered rosettes Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal tumor with multilayered rosettes
-MONDO:0000158 MONDO:equivalentTo DOID:0060930 developmental dysplasia of the hip developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:142700
-MONDO:0007628 MONDO:equivalentTo DOID:0070530 foveal hypoplasia 1 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136520
-MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c537835
-MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136550
-MONDO:0007729 MONDO:equivalentTo DOID:0060931 developmental dysplasia of the hip 1 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:142700
-MONDO:0007872 MONDO:equivalentTo DOID:0081370 LADD syndrome LADD syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:149730
-MONDO:0007909 MONDO:equivalentTo DOID:0070518 familial multiple lipomatosis familial multiple lipomatosis semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:d000071070
-MONDO:0007909 MONDO:equivalentTo DOID:0070518 familial multiple lipomatosis familial multiple lipomatosis semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:151900
-MONDO:0008164 MONDO:equivalentTo DOID:0060920 otosclerosis 1 otosclerosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:166800
-MONDO:0008672 MONDO:equivalentTo DOID:0070483 Watson syndrome Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:193520
-MONDO:0009726 MONDO:equivalentTo DOID:0060913 proteosome-associated autoinflammatory syndrome proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:256040
-MONDO:0010209 MONDO:equivalentTo DOID:0070452 xanthinuria type I xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:278300
-MONDO:0010857 MONDO:equivalentTo DOID:0081391 semantic dementia semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia
-MONDO:0011346 MONDO:equivalentTo DOID:0070453 xanthinuria type II xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:603592
-MONDO:0011586 MONDO:equivalentTo DOID:0060921 otosclerosis 2 otosclerosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:605727
-MONDO:0011937 MONDO:equivalentTo DOID:0070523 peeling skin syndrome 4 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c564309
-MONDO:0011937 MONDO:equivalentTo DOID:0070523 peeling skin syndrome 4 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607936
-MONDO:0011999 MONDO:equivalentTo DOID:0060922 otosclerosis 3 otosclerosis 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608244
-MONDO:0012121 MONDO:equivalentTo DOID:0060924 otosclerosis 5 otosclerosis 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608787
-MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c567020
-MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611087
-MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c548032
-MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611431
-MONDO:0012696 MONDO:equivalentTo DOID:0060923 otosclerosis 4 otosclerosis 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611571
-MONDO:0012697 MONDO:equivalentTo DOID:0060925 otosclerosis 7 otosclerosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611572
-MONDO:0012797 MONDO:equivalentTo DOID:0060926 otosclerosis 8 otosclerosis 8 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:612096
-MONDO:0014264 MONDO:equivalentTo DOID:0060927 otosclerosis 10 otosclerosis 10 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615589
-MONDO:0014277 MONDO:equivalentTo DOID:0060932 developmental dysplasia of the hip 2 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615612
-MONDO:0014299 MONDO:equivalentTo DOID:0070481 schwannomatosis 2 schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615670
-MONDO:0014923 MONDO:equivalentTo DOID:0070524 peeling skin syndrome 5 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617115
-MONDO:0014946 MONDO:equivalentTo DOID:0070529 Sifrim-Hitz-Weiss syndrome Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617159
-MONDO:0014958 MONDO:equivalentTo DOID:0081395 Harel-Yoon syndrome Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617183
-MONDO:0015059 MONDO:equivalentTo DOID:0081390 progressive non-fluent aphasia progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia
-MONDO:0016644 MONDO:equivalentTo DOID:0081389 logopenic progressive aphasia logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia
-MONDO:0018808 MONDO:equivalentTo DOID:0081394 Caroli syndrome Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome
-MONDO:0019806 MONDO:equivalentTo DOID:0081388 primary progressive aphasia primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia
-MONDO:0020310 MONDO:equivalentTo DOID:0081420 familial focal epilepsy with variable foci familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:604364
-MONDO:0020730 MONDO:equivalentTo DOID:0070466 carpal tunnel syndrome 1 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:115430
-MONDO:0024507 MONDO:equivalentTo DOID:0070532 aniridia 1 aniridia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:106210
-MONDO:0024517 MONDO:equivalentTo DOID:0070480 schwannomatosis 1 schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:162091
-MONDO:0024548 MONDO:equivalentTo DOID:0070520 peeling skin syndrome 1 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:270300
-MONDO:0030020 MONDO:equivalentTo DOID:0070424 combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618855
-MONDO:0030051 MONDO:equivalentTo DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618906
-MONDO:0030073 MONDO:equivalentTo DOID:0070516 Mitchell syndrome Mitchell syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618960
-MONDO:0030311 MONDO:equivalentTo DOID:0070425 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619386
-MONDO:0030378 MONDO:equivalentTo DOID:0070426 combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619423
-MONDO:0030543 MONDO:equivalentTo DOID:0070427 combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619737
-MONDO:0030883 MONDO:equivalentTo DOID:0070467 carpal tunnel syndrome 2 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619161
-MONDO:0032756 MONDO:equivalentTo DOID:0110649 long qt syndrome 8 long QT syndrome 8 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618447
-MONDO:0032815 MONDO:equivalentTo DOID:0070448 mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618567
-MONDO:0032915 MONDO:equivalentTo DOID:0070533 long QT syndrome 16 long QT syndrome 16 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618782
-MONDO:0032932 MONDO:equivalentTo DOID:0070449 mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618811
-MONDO:0033545 MONDO:equivalentTo DOID:0070450 mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618972
-MONDO:0033618 MONDO:equivalentTo DOID:0081397 Vissers-Bodmer syndrome Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619033
-MONDO:0044315 MONDO:equivalentTo DOID:0060912 craniosynostosis 7 craniosynostosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617439
-MONDO:0054560 MONDO:equivalentTo DOID:0050640 anauxetic dysplasia 1 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607095
-MONDO:0054699 MONDO:equivalentTo DOID:0060916 proteasome-associated autoinflammatory syndrome 3 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617591
-MONDO:0054835 MONDO:equivalentTo DOID:0070489 classic dopamine transporter deficiency syndrome classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:613135
-MONDO:0054852 MONDO:equivalentTo DOID:0070525 peeling skin syndrome 6 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618084
-MONDO:0060596 MONDO:equivalentTo DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617755
-MONDO:0060640 MONDO:equivalentTo DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617862
-MONDO:0700200 MONDO:equivalentTo DOID:0070488 atypical dopamine transporter deficiency syndrome atypical dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dopamine transporter deficiency syndrome
-MONDO:0859152 MONDO:equivalentTo DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619333
-MONDO:0859179 MONDO:equivalentTo DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619480
-MONDO:0859209 MONDO:equivalentTo DOID:0070473 Zaki syndrome Zaki syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619648
-MONDO:0859221 MONDO:equivalentTo DOID:0070468 Yoon-Bellen neurodevelopmental syndrome Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619701
-MONDO:0859228 MONDO:equivalentTo DOID:0070428 combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619743
-MONDO:0859256 MONDO:equivalentTo DOID:0070444 neurodevelopmental disorder with language delay and seizures neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619908
-MONDO:0859286 MONDO:equivalentTo DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620029
-MONDO:0859295 MONDO:equivalentTo DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620070
-MONDO:0859323 MONDO:equivalentTo DOID:0070429 combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620139
-MONDO:0859337 MONDO:equivalentTo DOID:0070430 combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620167
-MONDO:0859355 MONDO:equivalentTo DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620199
-MONDO:0859577 MONDO:equivalentTo DOID:0081371 lacrimoauriculodentodigital syndrome 2 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620192
-MONDO:0859578 MONDO:equivalentTo DOID:0081372 lacrimoauriculodentodigital syndrome 3 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620193
-MONDO:0957215 MONDO:equivalentTo DOID:0081352 congenital myopathy 20 congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620310
-MONDO:0957248 MONDO:equivalentTo DOID:0070376 developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620352
-MONDO:0957386 MONDO:equivalentTo DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620428
-MONDO:0957583 MONDO:equivalentTo DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620489
-MONDO:0957810 MONDO:equivalentTo DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies developmental delay, dysmorphic facies, and brain anomalies semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620535
-MONDO:0957870 MONDO:equivalentTo DOID:0070373 leukoencephalopathy with vanishing white matter 2 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620312
-MONDO:0957871 MONDO:equivalentTo DOID:0070372 leukoencephalopathy with vanishing white matter 3 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620313
-MONDO:0957872 MONDO:equivalentTo DOID:0070371 leukoencephalopathy with vanishing white matter 4 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620314
-MONDO:0957873 MONDO:equivalentTo DOID:0070367 leukoencephalopathy with vanishing white matter 5 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620315
-MONDO:0957928 MONDO:equivalentTo DOID:0060928 otosclerosis 11 otosclerosis 11 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620576
-MONDO:0958184 MONDO:equivalentTo DOID:0081359 epidermolytic hyperkeratosis 2 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620150
+MONDO:0958159 MONDO:equivalentTo NCIT:C178465 sarcoma with BCOR genetic alterations Sarcoma with BCOR Genetic Alterations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoma with bcor genetic alterations
+MONDO:0958160 MONDO:equivalentTo NCIT:C178459 round cell sarcoma with EWSR1-non-ETS fusion Round Cell Sarcoma with EWSR1-non-ETS Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with ewsr1-non-ets fusion
+MONDO:0958161 MONDO:equivalentTo NCIT:C199260 B acute lymphoblastic leukemia with PAX5 P80R mutation B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b acute lymphoblastic leukemia with pax5 p80r mutation
+MONDO:0958162 MONDO:equivalentTo NCIT:C199232 B acute lymphoblastic leukemia with DUX4 rearrangement B Acute Lymphoblastic Leukemia with DUX4 Rearrangement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b acute lymphoblastic leukemia with dux4 rearrangement
+MONDO:0958164 MONDO:equivalentTo NCIT:C177898 poorly differentiated chordoma Poorly Differentiated Chordoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poorly differentiated chordoma
+MONDO:0958165 MONDO:equivalentTo NCIT:C154496 anaplastic sarcoma of the kidney Anaplastic Sarcoma of the Kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic sarcoma of the kidney
+MONDO:0009619 MONDO:equivalentTo DOID:0081432 microcephaly-micromelia syndrome microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:251230
+MONDO:0013931 MONDO:equivalentTo DOID:0081433 peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614863
+MONDO:0013933 MONDO:equivalentTo DOID:0081434 peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614867
+MONDO:0013937 MONDO:equivalentTo DOID:0081435 peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614871
+MONDO:0013939 MONDO:equivalentTo DOID:0081436 peroxisome biogenesis disorder 7B Peroxisome biogenesis disorder 7B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614873
+MONDO:0013943 MONDO:equivalentTo DOID:0081437 peroxisome biogenesis disorder 8B Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614877
+MONDO:0013945 MONDO:equivalentTo DOID:0081438 peroxisome biogenesis disorder 9B Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614879
+MONDO:0013950 MONDO:equivalentTo DOID:0081439 peroxisome biogenesis disorder 11B Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614885
+MONDO:0025691 MONDO:equivalentTo DOID:0060937 dystonia 30 dystonia 30 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619291
+MONDO:0030455 MONDO:equivalentTo DOID:0060938 dystonia 31 dystonia 31 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619565
+MONDO:0030486 MONDO:equivalentTo DOID:0060939 dystonia 32 dystonia 32 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619637
+MONDO:0030513 MONDO:equivalentTo DOID:0060940 dystonia 33 dystonia 33 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619687
+MONDO:0030958 MONDO:equivalentTo DOID:0060955 dystonia 35, childhood-onset dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619921
+MONDO:0054549 MONDO:equivalentTo DOID:0081440 peroxisome biogenesis disorder 10B Peroxisome biogenesis disorder 10B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617370
+MONDO:0060533 MONDO:equivalentTo DOID:0081431 microcephaly, short stature, and limb abnormalities microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617604
+MONDO:0859139 MONDO:equivalentTo DOID:0081442 blepharophimosis-impaired intellectual development syndrome blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619293
+MONDO:0859377 MONDO:equivalentTo DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620242
+MONDO:0859380 MONDO:equivalentTo DOID:0060944 episodic kinesigenic dyskinesia 3 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620245
+MONDO:0957539 MONDO:equivalentTo DOID:0060966 dystonia 22, juvenile-onset dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620453
+MONDO:0957542 MONDO:equivalentTo DOID:0060967 dystonia 22, adult-onset dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620456
MONDO:0000088 MONDO:equivalentTo ICD10WHO:E30.1 precocious puberty Precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precocious puberty
MONDO:0000245 MONDO:equivalentTo ICD10WHO:B35.5 tinea imbricata Tinea imbricata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea imbricata
MONDO:0000367 MONDO:equivalentTo ICD10WHO:B68 taeniasis Taeniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label taeniasis
@@ -1274,4 +1222,5 @@ MONDO:0850046 MONDO:equivalentTo ICD10WHO:O88.1 amniotic fluid embolism Amniotic
MONDO:0850231 MONDO:equivalentTo ICD10WHO:L52 erythema nodosum Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum
MONDO:0850301 MONDO:equivalentTo ICD10WHO:L12 pemphigoid Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid
MONDO:0859565 MONDO:equivalentTo ICD10WHO:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect
+MONDO:0956980 MONDO:equivalentTo ICD10WHO:G21.4 vascular parkinsonism Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism
MONDO:0958083 MONDO:equivalentTo ICD10WHO:Q89.4 conjoined twins Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins
diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv
index 4634e247..cc2c0bed 100644
--- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv
+++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv
@@ -26,12 +26,14 @@ MONDO:0009535 obsolete lymphedema, congenital recessive OMIM:247440 MONDO:equiva
MONDO:0009553 obsolete Plasmodium falciparum blood infection level OMIM:248310 MONDO:equivalentTo plasmodium falciparum blood infection level semapv:UnspecifiedMatching
MONDO:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities OMIM:249660 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types OMIM:252700 MONDO:equivalentTo semapv:UnspecifiedMatching
+MONDO:0009941 obsolete Pygmy OMIM:265850 MONDO:equivalentTo pygmy semapv:UnspecifiedMatching
MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome OMIM:270710 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency OMIM:300274 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0010346 obsolete MRX52 OMIM:300504 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0010357 obsolete MRX78 OMIM:300551 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 OMIM:300640 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome OMIM:300660 MONDO:equivalentTo semapv:UnspecifiedMatching
+MONDO:0010425 Lisch epithelial corneal dystrophy OMIM:300778 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0010470 obsolete Baratela-Scott syndrome OMIM:300881 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome OMIM:301590 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0010601 obsolete gynecomastia, familial OMIM:306500 MONDO:equivalentTo semapv:UnspecifiedMatching
@@ -41,6 +43,7 @@ MONDO:0010859 obsolete atrioventricular septal defect 3 OMIM:600309 MONDO:equiva
MONDO:0011111 obsolete horns in sheep OMIM:601563 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0011543 obsolete BRCA3 OMIM:605365 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 OMIM:605429 MONDO:equivalentTo deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching
+MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration OMIM:607236 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0011809 obsolete mammographic density OMIM:607308 MONDO:equivalentTo mammographic density semapv:UnspecifiedMatching
MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C OMIM:607801 MONDO:equivalentTo semapv:UnspecifiedMatching
MONDO:0012140 obsolete pulmonary function OMIM:608852 MONDO:equivalentTo pulmonary function semapv:UnspecifiedMatching
diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv
index c5f66f3c..69bad2d9 100644
--- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv
+++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv
@@ -521,7 +521,6 @@ MONDO:0018753 obsolete rare disease with malignant hyperthermia Orphanet:466658
MONDO:0018771 obsolete congenital anomaly of ventricular septum Orphanet:474347 MONDO:equivalentTo Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching
MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy Orphanet:476109 MONDO:equivalentTo Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching
MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome Orphanet:476403 MONDO:equivalentTo Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching
-MONDO:0018782 obsolete type 1 interferonopathy Orphanet:477647 MONDO:equivalentTo Type 1 interferonopathy semapv:UnspecifiedMatching
MONDO:0018787 obsolete genetic cerebral small vessel disease Orphanet:477754 MONDO:equivalentTo Genetic cerebral small vessel disease semapv:UnspecifiedMatching
MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease Orphanet:477759 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching
MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy Orphanet:477762 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv
deleted file mode 100644
index fbd52f9c..00000000
--- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv
+++ /dev/null
@@ -1,2 +0,0 @@
-subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
-MONDO:0800448 leukoencephalopathy with vanishing white matter skos:broadMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym cree leukoencephalopathy LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv
index 27728d4d..420ac95b 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10cm.tsv
@@ -58,9 +58,6 @@ MONDO:0011057 cerebrovascular disorder skos:broadMatch ICD10CM:I63 Cerebral infa
MONDO:0011786 allergic rhinitis skos:broadMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym perennial allergic rhinitis LEXMATCH
MONDO:0016367 dermatomyositis skos:broadMatch ICD10CM:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym adult dermatomyositis LEXMATCH
MONDO:0018938 mucopolysaccharidosis type 4 skos:broadMatch ICD10CM:E76.210 Morquio A mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym morquio syndrome a LEXMATCH
-MONDO:0020290 familial atrioventricular septal defect skos:broadMatch ICD10CM:Q21.2 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym common atrioventricular canal LEXMATCH
-MONDO:0020290 familial atrioventricular septal defect skos:broadMatch ICD10CM:Q21.2 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym endocardial cushion defect LEXMATCH
-MONDO:0020290 familial atrioventricular septal defect skos:broadMatch ICD10CM:Q21.2 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label atrioventricular septal defect LEXMATCH
MONDO:0021005 faciodigitogenital syndrome skos:broadMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym aarskog syndrome LEXMATCH
MONDO:0021113 respiratory failure skos:broadMatch ICD10CM:J96.0 Acute respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label acute respiratory failure LEXMATCH
MONDO:0021113 respiratory failure skos:broadMatch ICD10CM:J96.1 Chronic respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label chronic respiratory failure LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10who.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10who.tsv
index 32bcdfaf..ccbdaa57 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10who.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_icd10who.tsv
@@ -25,7 +25,6 @@ MONDO:0006651 anterior uveitis skos:broadMatch ICD10WHO:H20 Iridocyclitis semapv
MONDO:0010481 angioedema skos:broadMatch ICD10WHO:T78.3 Angioneurotic oedema semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label angioneurotic oedema LEXMATCH
MONDO:0011057 cerebrovascular disorder skos:broadMatch ICD10WHO:I63 Cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label cerebral infarction LEXMATCH
MONDO:0011429 juvenile idiopathic arthritis skos:broadMatch ICD10WHO:M08.4 Pauciarticular juvenile arthritis semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label pauciarticular juvenile arthritis LEXMATCH
-MONDO:0020290 familial atrioventricular septal defect skos:broadMatch ICD10WHO:Q21.2 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label atrioventricular septal defect LEXMATCH
MONDO:0021113 respiratory failure skos:broadMatch ICD10WHO:J96.0 Acute respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label acute respiratory failure LEXMATCH
MONDO:0021113 respiratory failure skos:broadMatch ICD10WHO:J96.1 Chronic respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label chronic respiratory failure LEXMATCH
MONDO:0021129 microphthalmia skos:broadMatch ICD10WHO:Q11.2 Microphthalmos semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label microphthalmos LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv
index 3c02dbb9..fb238dc2 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv
@@ -1,1061 +1,151 @@
subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
-MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000082602 LEXMATCH
-MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:142700 LEXMATCH
-MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:142700 LEXMATCH
-MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d000082602 LEXMATCH
-MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:142700 LEXMATCH
-MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:142700 LEXMATCH
-MONDO:0000158 developmental dysplasia of the hip skos:closeMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:142700 LEXMATCH
-MONDO:0002601 teratoma skos:closeMatch DOID:0080602 benign teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9080/1 LEXMATCH
-MONDO:0005111 Epstein-Barr virus infection skos:closeMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020031 LEXMATCH
-MONDO:0005111 Epstein-Barr virus infection skos:closeMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d020031 LEXMATCH
-MONDO:0005111 Epstein-Barr virus infection skos:closeMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d020031 LEXMATCH
-MONDO:0005220 collecting duct carcinoma skos:closeMatch DOID:0070475 SMARCB1-deficient renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal medullary carcinoma LEXMATCH
-MONDO:0006260 kidney medullary carcinoma skos:closeMatch DOID:0070475 SMARCB1-deficient renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13175 LEXMATCH
-MONDO:0006260 kidney medullary carcinoma skos:closeMatch DOID:0070475 SMARCB1-deficient renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13175 LEXMATCH
-MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136520 LEXMATCH
-MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:136520 LEXMATCH
-MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract LEXMATCH
-MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136520 LEXMATCH
-MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:136520 LEXMATCH
-MONDO:0007628 foveal hypoplasia 1 skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:136520 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:9179 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537835 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136550 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:9179 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c537835 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:136550 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c537835 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136550 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:136550 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:136550 LEXMATCH
-MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch DOID:0080763 diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse gastric cancer LEXMATCH
-MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142700 LEXMATCH
-MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:142700 LEXMATCH
-MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:142700 LEXMATCH
-MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:142700 LEXMATCH
-MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:142700 LEXMATCH
-MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym ichthyosis exfoliativa LEXMATCH
-MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym ichthyosis exfoliativa LEXMATCH
-MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:149730 LEXMATCH
-MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:149730 LEXMATCH
-MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:149730 LEXMATCH
-MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:149730 LEXMATCH
-MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:149730 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:12925 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000071070 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151900 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:12925 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d000071070 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:151900 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d000071070 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151900 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:151900 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:closeMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:151900 LEXMATCH
-MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162210 LEXMATCH
-MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:162210 LEXMATCH
-MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162210 LEXMATCH
-MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:162210 LEXMATCH
-MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:162210 LEXMATCH
-MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166800 LEXMATCH
-MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:166800 LEXMATCH
-MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166800 LEXMATCH
-MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:166800 LEXMATCH
-MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:166800 LEXMATCH
-MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193520 LEXMATCH
-MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:193520 LEXMATCH
-MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193520 LEXMATCH
-MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:193520 LEXMATCH
-MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:193520 LEXMATCH
-MONDO:0008978 chordoma skos:closeMatch DOID:0081417 poorly differentiated chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9370/3 LEXMATCH
-MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220110 LEXMATCH
-MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:220110 LEXMATCH
-MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220110 LEXMATCH
-MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:220110 LEXMATCH
-MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:220110 LEXMATCH
-MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:48 LEXMATCH
-MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated cytochrome c oxidase deficiency LEXMATCH
-MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch DOID:0080400 orofacial cleft 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft 7 LEXMATCH
-MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome LEXMATCH
-MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239300 LEXMATCH
-MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:239300 LEXMATCH
-MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 2 LEXMATCH
-MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs1 LEXMATCH
-MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239300 LEXMATCH
-MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:239300 LEXMATCH
-MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:239300 LEXMATCH
-MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:256040 LEXMATCH
-MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:256040 LEXMATCH
-MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:256040 LEXMATCH
-MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:256040 LEXMATCH
-MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:256040 LEXMATCH
-MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:117 LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536632 LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269150 LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:117 LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c536632 LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:269150 LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel-giedion midface retraction syndrome LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schinzel giedion syndrome LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c536632 LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269150 LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:269150 LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:269150 LEXMATCH
-MONDO:0010033 generalized peeling skin syndrome skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome 1 LEXMATCH
-MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5621 LEXMATCH
-MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562584 LEXMATCH
-MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 LEXMATCH
-MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:278300 LEXMATCH
-MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c562584 LEXMATCH
-MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278300 LEXMATCH
-MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:278300 LEXMATCH
-MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:278300 LEXMATCH
-MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch DOID:0070538 syndromic X-linked intellectual developmental disorder bain type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300986 LEXMATCH
-MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch DOID:0070538 syndromic X-linked intellectual developmental disorder bain type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:300986 LEXMATCH
-MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch DOID:0070538 syndromic X-linked intellectual developmental disorder bain type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300986 LEXMATCH
-MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch DOID:0070538 syndromic X-linked intellectual developmental disorder bain type semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:300986 LEXMATCH
-MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch DOID:0070538 syndromic X-linked intellectual developmental disorder bain type semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:300986 LEXMATCH
-MONDO:0010857 semantic dementia skos:closeMatch DOID:0081391 semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10792 LEXMATCH
-MONDO:0010913 Caroli disease skos:closeMatch DOID:0081394 Caroli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:6002 LEXMATCH
-MONDO:0010979 Timothy syndrome skos:closeMatch DOID:0110649 long QT syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome 8 LEXMATCH
-MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5620 LEXMATCH
-MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566358 LEXMATCH
-MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 LEXMATCH
-MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:603592 LEXMATCH
-MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c566358 LEXMATCH
-MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603592 LEXMATCH
-MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:603592 LEXMATCH
-MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:603592 LEXMATCH
-MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605727 LEXMATCH
-MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:605727 LEXMATCH
-MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605727 LEXMATCH
-MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:605727 LEXMATCH
-MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:605727 LEXMATCH
-MONDO:0011773 anauxetic dysplasia skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia 1 LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564309 LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607936 LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c564309 LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:607936 LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis bullosa of siemens-like LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c564309 LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607936 LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:607936 LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:closeMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:607936 LEXMATCH
-MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562746 LEXMATCH
-MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608051 LEXMATCH
-MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c562746 LEXMATCH
-MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608051 LEXMATCH
-MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c562746 LEXMATCH
-MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608051 LEXMATCH
-MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:608051 LEXMATCH
-MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:608051 LEXMATCH
-MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608244 LEXMATCH
-MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608244 LEXMATCH
-MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608244 LEXMATCH
-MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:608244 LEXMATCH
-MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:608244 LEXMATCH
-MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:9842 LEXMATCH
-MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535754 LEXMATCH
-MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608779 LEXMATCH
-MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608779 LEXMATCH
-MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iie LEXMATCH
-MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c535754 LEXMATCH
-MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608779 LEXMATCH
-MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:608779 LEXMATCH
-MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:608779 LEXMATCH
-MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608787 LEXMATCH
-MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608787 LEXMATCH
-MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608787 LEXMATCH
-MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:608787 LEXMATCH
-MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:608787 LEXMATCH
-MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608850 LEXMATCH
-MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608850 LEXMATCH
-MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdr3 LEXMATCH
-MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608850 LEXMATCH
-MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:608850 LEXMATCH
-MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:608850 LEXMATCH
-MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609218 LEXMATCH
-MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:609218 LEXMATCH
-MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasExactSynonym oio:hasNarrowSynonym fhonda syndrome LEXMATCH
-MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis LEXMATCH
-MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label foveal hypoplasia 2 LEXMATCH
-MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609218 LEXMATCH
-MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:609218 LEXMATCH
-MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:609218 LEXMATCH
-MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609446 LEXMATCH
-MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:609446 LEXMATCH
-MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized epilepsy and paroxysmal dyskinesia LEXMATCH
-MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609446 LEXMATCH
-MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:609446 LEXMATCH
-MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:609446 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:12863 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536316 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609796 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:12863 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c536316 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:609796 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome 2 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c536316 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609796 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:609796 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:closeMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:609796 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:12913 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567020 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611087 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:12913 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c567020 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611087 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pretzel syndrome LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c567020 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611087 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:611087 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:611087 LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10714 LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611431 LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:10714 LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c548032 LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611431 LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1-like syndrome LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c548032 LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611431 LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:611431 LEXMATCH
-MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:611431 LEXMATCH
-MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611571 LEXMATCH
-MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611571 LEXMATCH
-MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611571 LEXMATCH
-MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:611571 LEXMATCH
-MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:611571 LEXMATCH
-MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611572 LEXMATCH
-MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611572 LEXMATCH
-MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611572 LEXMATCH
-MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:611572 LEXMATCH
-MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:611572 LEXMATCH
-MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10740 LEXMATCH
-MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611913 LEXMATCH
-MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:10740 LEXMATCH
-MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611913 LEXMATCH
-MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome 16p11.2 deletion syndrome, 593-kb LEXMATCH
-MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611913 LEXMATCH
-MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:611913 LEXMATCH
-MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:611913 LEXMATCH
-MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612096 LEXMATCH
-MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:612096 LEXMATCH
-MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612096 LEXMATCH
-MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:612096 LEXMATCH
-MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:612096 LEXMATCH
-MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10484 LEXMATCH
-MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567730 LEXMATCH
-MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:10484 LEXMATCH
-MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c567730 LEXMATCH
-MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c567730 LEXMATCH
-MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614207 LEXMATCH
-MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614207 LEXMATCH
-MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 8 LEXMATCH
-MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs3 LEXMATCH
-MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614207 LEXMATCH
-MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614207 LEXMATCH
-MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614207 LEXMATCH
-MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614749 LEXMATCH
-MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614749 LEXMATCH
-MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 6 LEXMATCH
-MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs2 LEXMATCH
-MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614749 LEXMATCH
-MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614749 LEXMATCH
-MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614749 LEXMATCH
-MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615228 LEXMATCH
-MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615228 LEXMATCH
-MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615228 LEXMATCH
-MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615228 LEXMATCH
-MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615228 LEXMATCH
-MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615589 LEXMATCH
-MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615589 LEXMATCH
-MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615589 LEXMATCH
-MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615589 LEXMATCH
-MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615589 LEXMATCH
-MONDO:0014277 developmental dysplasia of the hip 2 skos:closeMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615612 LEXMATCH
-MONDO:0014277 developmental dysplasia of the hip 2 skos:closeMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615612 LEXMATCH
-MONDO:0014277 developmental dysplasia of the hip 2 skos:closeMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615612 LEXMATCH
-MONDO:0014277 developmental dysplasia of the hip 2 skos:closeMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615612 LEXMATCH
-MONDO:0014277 developmental dysplasia of the hip 2 skos:closeMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615612 LEXMATCH
-MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615670 LEXMATCH
-MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615670 LEXMATCH
-MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis 2 LEXMATCH
-MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615670 LEXMATCH
-MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615670 LEXMATCH
-MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615670 LEXMATCH
-MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615716 LEXMATCH
-MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615716 LEXMATCH
-MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615716 LEXMATCH
-MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615716 LEXMATCH
-MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615716 LEXMATCH
-MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs4 LEXMATCH
-MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 LEXMATCH
-MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615889 LEXMATCH
-MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615889 LEXMATCH
-MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615889 LEXMATCH
-MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615889 LEXMATCH
-MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615919 LEXMATCH
-MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615919 LEXMATCH
-MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcna-related progressive neurodegenerative photosensitivity syndrome LEXMATCH
-MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615919 LEXMATCH
-MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615919 LEXMATCH
-MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615919 LEXMATCH
-MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616025 LEXMATCH
-MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616025 LEXMATCH
-MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 11 LEXMATCH
-MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs5 LEXMATCH
-MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616025 LEXMATCH
-MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616025 LEXMATCH
-MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616025 LEXMATCH
-MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 LEXMATCH
-MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616265 LEXMATCH
-MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome 3 LEXMATCH
-MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616265 LEXMATCH
-MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616265 LEXMATCH
-MONDO:0014555 peeling skin syndrome type A skos:closeMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616265 LEXMATCH
-MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13111 LEXMATCH
-MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616267 LEXMATCH
-MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616267 LEXMATCH
-MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616267 LEXMATCH
-MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616267 LEXMATCH
-MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616267 LEXMATCH
-MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616295 LEXMATCH
-MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616295 LEXMATCH
-MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads LEXMATCH
-MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616295 LEXMATCH
-MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616295 LEXMATCH
-MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616295 LEXMATCH
-MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13425 LEXMATCH
-MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616657 LEXMATCH
-MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13425 LEXMATCH
-MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616657 LEXMATCH
-MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic tetraplegia, thin corpus callosum, and progressive microcephaly LEXMATCH
-MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616657 LEXMATCH
-MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616657 LEXMATCH
-MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616657 LEXMATCH
-MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616809 LEXMATCH
-MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616809 LEXMATCH
-MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616809 LEXMATCH
-MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616809 LEXMATCH
-MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616809 LEXMATCH
-MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616900 LEXMATCH
-MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616900 LEXMATCH
-MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616900 LEXMATCH
-MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616900 LEXMATCH
-MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616900 LEXMATCH
-MONDO:0014923 peeling skin syndrome 5 skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617115 LEXMATCH
-MONDO:0014923 peeling skin syndrome 5 skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617115 LEXMATCH
-MONDO:0014923 peeling skin syndrome 5 skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617115 LEXMATCH
-MONDO:0014923 peeling skin syndrome 5 skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617115 LEXMATCH
-MONDO:0014923 peeling skin syndrome 5 skos:closeMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617115 LEXMATCH
-MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617116 LEXMATCH
-MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617116 LEXMATCH
-MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617116 LEXMATCH
-MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617116 LEXMATCH
-MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617116 LEXMATCH
-MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617118 LEXMATCH
-MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617118 LEXMATCH
-MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617118 LEXMATCH
-MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617118 LEXMATCH
-MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617118 LEXMATCH
-MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617159 LEXMATCH
-MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617159 LEXMATCH
-MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome LEXMATCH
-MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617159 LEXMATCH
-MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617159 LEXMATCH
-MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617159 LEXMATCH
-MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617183 LEXMATCH
-MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617183 LEXMATCH
-MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617183 LEXMATCH
-MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617183 LEXMATCH
-MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617183 LEXMATCH
-MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13488 LEXMATCH
-MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617282 LEXMATCH
-MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617282 LEXMATCH
-MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia 29, childhood-onset LEXMATCH
-MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617282 LEXMATCH
-MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617282 LEXMATCH
-MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617282 LEXMATCH
-MONDO:0015059 progressive non-fluent aphasia skos:closeMatch DOID:0081390 progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10793 LEXMATCH
-MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8815/1 LEXMATCH
-MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma LEXMATCH
-MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:narrowMatch gard:406 LEXMATCH
-MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasExactSynonym oio:hasNarrowSynonym o'donnell-pappas syndrome LEXMATCH
-MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 rdfs:label oio:hasNarrowSynonym foveal hypoplasia-presenile cataract syndrome LEXMATCH
-MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:239300 LEXMATCH
-MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:239300 LEXMATCH
-MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:239300 LEXMATCH
-MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:239300 LEXMATCH
-MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:239300 LEXMATCH
-MONDO:0016644 logopenic progressive aphasia skos:closeMatch DOID:0081389 logopenic progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10791 LEXMATCH
-MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0081257 astrocytoma, IDH-mutant, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH
-MONDO:0016695 oligodendroglioma skos:closeMatch DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9450/3 LEXMATCH
-MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9451/3 LEXMATCH
-MONDO:0016710 medulloblastoma with extensive nodularity skos:closeMatch DOID:0080705 medulloblastoma SHH activated and TP53 wild-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9471/3 LEXMATCH
-MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch DOID:0080705 medulloblastoma SHH activated and TP53 wild-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9471/3 LEXMATCH
-MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13594 LEXMATCH
-MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618049 LEXMATCH
-MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13594 LEXMATCH
-MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618049 LEXMATCH
-MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618049 LEXMATCH
-MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618049 LEXMATCH
-MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618049 LEXMATCH
-MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13423 LEXMATCH
-MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616878 LEXMATCH
-MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616878 LEXMATCH
-MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616878 LEXMATCH
-MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616878 LEXMATCH
-MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616878 LEXMATCH
-MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151623 LEXMATCH
-MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:151623 LEXMATCH
-MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151623 LEXMATCH
-MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:151623 LEXMATCH
-MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:151623 LEXMATCH
-MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117550 LEXMATCH
-MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:117550 LEXMATCH
-MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sotos1 LEXMATCH
-MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117550 LEXMATCH
-MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:117550 LEXMATCH
-MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:117550 LEXMATCH
-MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch DOID:0081256 astrocytoma, IDH-mutant, grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9400/3 LEXMATCH
-MONDO:0019806 primary progressive aphasia skos:closeMatch DOID:0081388 primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:8541 LEXMATCH
-MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13295 LEXMATCH
-MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:604364 LEXMATCH
-MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:604364 LEXMATCH
-MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:604364 LEXMATCH
-MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:604364 LEXMATCH
-MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:604364 LEXMATCH
-MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cree leukoencephalopathy LEXMATCH
-MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115430 LEXMATCH
-MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:115430 LEXMATCH
-MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115430 LEXMATCH
-MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:115430 LEXMATCH
-MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:115430 LEXMATCH
-MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266100 LEXMATCH
-MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:266100 LEXMATCH
-MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency LEXMATCH
-MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266100 LEXMATCH
-MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:266100 LEXMATCH
-MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:266100 LEXMATCH
-MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618387 LEXMATCH
-MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618387 LEXMATCH
-MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618387 LEXMATCH
-MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618387 LEXMATCH
-MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618387 LEXMATCH
-MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618120 LEXMATCH
-MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618120 LEXMATCH
-MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618120 LEXMATCH
-MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618120 LEXMATCH
-MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618120 LEXMATCH
-MONDO:0024507 aniridia 1 skos:closeMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106210 LEXMATCH
-MONDO:0024507 aniridia 1 skos:closeMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:106210 LEXMATCH
-MONDO:0024507 aniridia 1 skos:closeMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106210 LEXMATCH
-MONDO:0024507 aniridia 1 skos:closeMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:106210 LEXMATCH
-MONDO:0024507 aniridia 1 skos:closeMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:106210 LEXMATCH
-MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162091 LEXMATCH
-MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:162091 LEXMATCH
-MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis 1 LEXMATCH
-MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162091 LEXMATCH
-MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:162091 LEXMATCH
-MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:162091 LEXMATCH
-MONDO:0024548 peeling skin syndrome 1 skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 LEXMATCH
-MONDO:0024548 peeling skin syndrome 1 skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:270300 LEXMATCH
-MONDO:0024548 peeling skin syndrome 1 skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270300 LEXMATCH
-MONDO:0024548 peeling skin syndrome 1 skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:270300 LEXMATCH
-MONDO:0024548 peeling skin syndrome 1 skos:closeMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:270300 LEXMATCH
-MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604364 LEXMATCH
-MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:604364 LEXMATCH
-MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604364 LEXMATCH
-MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:604364 LEXMATCH
-MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:604364 LEXMATCH
-MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604391 LEXMATCH
-MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:604391 LEXMATCH
-MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604391 LEXMATCH
-MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:604391 LEXMATCH
-MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:604391 LEXMATCH
-MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618832 LEXMATCH
-MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618832 LEXMATCH
-MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618832 LEXMATCH
-MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618832 LEXMATCH
-MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618832 LEXMATCH
-MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618855 LEXMATCH
-MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618855 LEXMATCH
-MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618855 LEXMATCH
-MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618855 LEXMATCH
-MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618855 LEXMATCH
-MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618906 LEXMATCH
-MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618906 LEXMATCH
-MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618906 LEXMATCH
-MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618906 LEXMATCH
-MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618906 LEXMATCH
-MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618912 LEXMATCH
-MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618912 LEXMATCH
-MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618912 LEXMATCH
-MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618912 LEXMATCH
-MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618912 LEXMATCH
-MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618960 LEXMATCH
-MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618960 LEXMATCH
-MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618960 LEXMATCH
-MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618960 LEXMATCH
-MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618960 LEXMATCH
-MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619386 LEXMATCH
-MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619386 LEXMATCH
-MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619386 LEXMATCH
-MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619386 LEXMATCH
-MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619386 LEXMATCH
-MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619425 LEXMATCH
-MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619425 LEXMATCH
-MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619425 LEXMATCH
-MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619425 LEXMATCH
-MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619425 LEXMATCH
-MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619477 LEXMATCH
-MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619477 LEXMATCH
-MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619477 LEXMATCH
-MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619477 LEXMATCH
-MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619477 LEXMATCH
-MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619478 LEXMATCH
-MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619478 LEXMATCH
-MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619478 LEXMATCH
-MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619478 LEXMATCH
-MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619478 LEXMATCH
-MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619423 LEXMATCH
-MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619423 LEXMATCH
-MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619423 LEXMATCH
-MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619423 LEXMATCH
-MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619423 LEXMATCH
-MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:closeMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619737 LEXMATCH
-MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:closeMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619737 LEXMATCH
-MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:closeMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619737 LEXMATCH
-MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:closeMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619737 LEXMATCH
-MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:closeMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619737 LEXMATCH
-MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619780 LEXMATCH
-MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619780 LEXMATCH
-MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619780 LEXMATCH
-MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619780 LEXMATCH
-MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619780 LEXMATCH
-MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619112 LEXMATCH
-MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619112 LEXMATCH
-MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619112 LEXMATCH
-MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619112 LEXMATCH
-MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619112 LEXMATCH
-MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619161 LEXMATCH
-MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619161 LEXMATCH
-MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619161 LEXMATCH
-MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619161 LEXMATCH
-MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619161 LEXMATCH
-MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 LEXMATCH
-MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619133 LEXMATCH
-MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619133 LEXMATCH
-MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619133 LEXMATCH
-MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619133 LEXMATCH
-MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619175 LEXMATCH
-MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619175 LEXMATCH
-MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619175 LEXMATCH
-MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619175 LEXMATCH
-MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619175 LEXMATCH
-MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619183 LEXMATCH
-MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619183 LEXMATCH
-MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619183 LEXMATCH
-MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619183 LEXMATCH
-MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619183 LEXMATCH
-MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619216 LEXMATCH
-MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619216 LEXMATCH
-MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619216 LEXMATCH
-MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619216 LEXMATCH
-MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619216 LEXMATCH
-MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619966 LEXMATCH
-MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619966 LEXMATCH
-MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619966 LEXMATCH
-MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619966 LEXMATCH
-MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619966 LEXMATCH
-MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:136550 LEXMATCH
-MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:136550 LEXMATCH
-MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:136550 LEXMATCH
-MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:136550 LEXMATCH
-MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:136550 LEXMATCH
-MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:616901 LEXMATCH
-MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:616901 LEXMATCH
-MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:616901 LEXMATCH
-MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:616901 LEXMATCH
-MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:616901 LEXMATCH
-MONDO:0032756 long qt syndrome 8 skos:closeMatch DOID:0110649 long QT syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 LEXMATCH
-MONDO:0032756 long qt syndrome 8 skos:closeMatch DOID:0110649 long QT syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618447 LEXMATCH
-MONDO:0032756 long qt syndrome 8 skos:closeMatch DOID:0110649 long QT syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome 8 LEXMATCH
-MONDO:0032756 long qt syndrome 8 skos:closeMatch DOID:0110649 long QT syndrome 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618447 LEXMATCH
-MONDO:0032756 long qt syndrome 8 skos:closeMatch DOID:0110649 long QT syndrome 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618447 LEXMATCH
-MONDO:0032756 long qt syndrome 8 skos:closeMatch DOID:0110649 long QT syndrome 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618447 LEXMATCH
-MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618500 LEXMATCH
-MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618500 LEXMATCH
-MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618500 LEXMATCH
-MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618500 LEXMATCH
-MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618500 LEXMATCH
-MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618528 LEXMATCH
-MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618528 LEXMATCH
-MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome 16 (hepatic type) LEXMATCH
-MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618528 LEXMATCH
-MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618528 LEXMATCH
-MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618528 LEXMATCH
-MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618567 LEXMATCH
-MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618567 LEXMATCH
-MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome 17 LEXMATCH
-MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618567 LEXMATCH
-MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618567 LEXMATCH
-MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618567 LEXMATCH
-MONDO:0032915 long QT syndrome 16 skos:closeMatch DOID:0070533 long QT syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618782 LEXMATCH
-MONDO:0032915 long QT syndrome 16 skos:closeMatch DOID:0070533 long QT syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618782 LEXMATCH
-MONDO:0032915 long QT syndrome 16 skos:closeMatch DOID:0070533 long QT syndrome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618782 LEXMATCH
-MONDO:0032915 long QT syndrome 16 skos:closeMatch DOID:0070533 long QT syndrome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618782 LEXMATCH
-MONDO:0032915 long QT syndrome 16 skos:closeMatch DOID:0070533 long QT syndrome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618782 LEXMATCH
-MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 LEXMATCH
-MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618810 LEXMATCH
-MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrinl syndrome LEXMATCH
-MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618810 LEXMATCH
-MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618810 LEXMATCH
-MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618810 LEXMATCH
-MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618811 LEXMATCH
-MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618811 LEXMATCH
-MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome 18 LEXMATCH
-MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618811 LEXMATCH
-MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618811 LEXMATCH
-MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618811 LEXMATCH
-MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618815 LEXMATCH
-MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618815 LEXMATCH
-MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant LEXMATCH
-MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618815 LEXMATCH
-MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618815 LEXMATCH
-MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618815 LEXMATCH
-MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618972 LEXMATCH
-MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618972 LEXMATCH
-MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome 19 LEXMATCH
-MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618972 LEXMATCH
-MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618972 LEXMATCH
-MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618972 LEXMATCH
-MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619033 LEXMATCH
-MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619033 LEXMATCH
-MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619033 LEXMATCH
-MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619033 LEXMATCH
-MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619033 LEXMATCH
-MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619046 LEXMATCH
-MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619046 LEXMATCH
-MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619046 LEXMATCH
-MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619046 LEXMATCH
-MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619046 LEXMATCH
-MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619048 LEXMATCH
-MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619048 LEXMATCH
-MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619048 LEXMATCH
-MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619048 LEXMATCH
-MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619048 LEXMATCH
-MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619051 LEXMATCH
-MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619051 LEXMATCH
-MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619051 LEXMATCH
-MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619051 LEXMATCH
-MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619051 LEXMATCH
-MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619052 LEXMATCH
-MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619052 LEXMATCH
-MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619052 LEXMATCH
-MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619052 LEXMATCH
-MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619052 LEXMATCH
-MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619053 LEXMATCH
-MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619053 LEXMATCH
-MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619053 LEXMATCH
-MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619053 LEXMATCH
-MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619053 LEXMATCH
-MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619054 LEXMATCH
-MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619054 LEXMATCH
-MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619054 LEXMATCH
-MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619054 LEXMATCH
-MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619054 LEXMATCH
-MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619055 LEXMATCH
-MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619055 LEXMATCH
-MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619055 LEXMATCH
-MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619055 LEXMATCH
-MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619055 LEXMATCH
-MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619058 LEXMATCH
-MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619058 LEXMATCH
-MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619058 LEXMATCH
-MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619058 LEXMATCH
-MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619058 LEXMATCH
-MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619059 LEXMATCH
-MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619059 LEXMATCH
-MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619059 LEXMATCH
-MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619059 LEXMATCH
-MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619059 LEXMATCH
-MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619060 LEXMATCH
-MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619060 LEXMATCH
-MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619060 LEXMATCH
-MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619060 LEXMATCH
-MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619060 LEXMATCH
-MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619061 LEXMATCH
-MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619061 LEXMATCH
-MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619061 LEXMATCH
-MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619061 LEXMATCH
-MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619061 LEXMATCH
-MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619062 LEXMATCH
-MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619062 LEXMATCH
-MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619062 LEXMATCH
-MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619062 LEXMATCH
-MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619062 LEXMATCH
-MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619063 LEXMATCH
-MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619063 LEXMATCH
-MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619063 LEXMATCH
-MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619063 LEXMATCH
-MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619063 LEXMATCH
-MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619064 LEXMATCH
-MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619064 LEXMATCH
-MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619064 LEXMATCH
-MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619064 LEXMATCH
-MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619064 LEXMATCH
-MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619065 LEXMATCH
-MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619065 LEXMATCH
-MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619065 LEXMATCH
-MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619065 LEXMATCH
-MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619065 LEXMATCH
-MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617439 LEXMATCH
-MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617439 LEXMATCH
-MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617439 LEXMATCH
-MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617439 LEXMATCH
-MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617439 LEXMATCH
-MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13658 LEXMATCH
-MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617672 LEXMATCH
-MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13658 LEXMATCH
-MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617672 LEXMATCH
-MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617672 LEXMATCH
-MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617672 LEXMATCH
-MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617672 LEXMATCH
-MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607095 LEXMATCH
-MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:607095 LEXMATCH
-MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia, menger type LEXMATCH
-MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607095 LEXMATCH
-MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:607095 LEXMATCH
-MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:607095 LEXMATCH
-MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617591 LEXMATCH
-MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617591 LEXMATCH
-MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617591 LEXMATCH
-MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617591 LEXMATCH
-MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617591 LEXMATCH
-MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618048 LEXMATCH
-MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618048 LEXMATCH
-MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618048 LEXMATCH
-MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618048 LEXMATCH
-MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618048 LEXMATCH
-MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617892 LEXMATCH
-MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617892 LEXMATCH
-MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617892 LEXMATCH
-MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617892 LEXMATCH
-MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617892 LEXMATCH
-MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617935 LEXMATCH
-MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617935 LEXMATCH
-MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617935 LEXMATCH
-MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617935 LEXMATCH
-MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617935 LEXMATCH
-MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070487 dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dopamine transporter deficiency syndrome LEXMATCH
-MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613135 LEXMATCH
-MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:613135 LEXMATCH
-MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613135 LEXMATCH
-MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613135 LEXMATCH
-MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:613135 LEXMATCH
-MONDO:0054852 peeling skin syndrome 6 skos:closeMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618084 LEXMATCH
-MONDO:0054852 peeling skin syndrome 6 skos:closeMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618084 LEXMATCH
-MONDO:0054852 peeling skin syndrome 6 skos:closeMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618084 LEXMATCH
-MONDO:0054852 peeling skin syndrome 6 skos:closeMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618084 LEXMATCH
-MONDO:0054852 peeling skin syndrome 6 skos:closeMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618084 LEXMATCH
-MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617755 LEXMATCH
-MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617755 LEXMATCH
-MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617755 LEXMATCH
-MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617755 LEXMATCH
-MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617755 LEXMATCH
-MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:closeMatch DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617862 LEXMATCH
-MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:closeMatch DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617862 LEXMATCH
-MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:closeMatch DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617862 LEXMATCH
-MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:closeMatch DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617862 LEXMATCH
-MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:closeMatch DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617862 LEXMATCH
-MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617921 LEXMATCH
-MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617921 LEXMATCH
-MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617921 LEXMATCH
-MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617921 LEXMATCH
-MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617921 LEXMATCH
-MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620062 LEXMATCH
-MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620062 LEXMATCH
-MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620062 LEXMATCH
-MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620062 LEXMATCH
-MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620062 LEXMATCH
-MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616901 LEXMATCH
-MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616901 LEXMATCH
-MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome LEXMATCH
-MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616901 LEXMATCH
-MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616901 LEXMATCH
-MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616901 LEXMATCH
-MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasRelatedSynonym ovarioleukodystrophy LEXMATCH
-MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619333 LEXMATCH
-MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619333 LEXMATCH
-MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619333 LEXMATCH
-MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619333 LEXMATCH
-MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619333 LEXMATCH
-MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619355 LEXMATCH
-MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619355 LEXMATCH
-MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619355 LEXMATCH
-MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619355 LEXMATCH
-MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619355 LEXMATCH
-MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619480 LEXMATCH
-MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619480 LEXMATCH
-MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619480 LEXMATCH
-MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619480 LEXMATCH
-MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619480 LEXMATCH
-MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619648 LEXMATCH
-MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619648 LEXMATCH
-MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619648 LEXMATCH
-MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619648 LEXMATCH
-MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619648 LEXMATCH
-MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619681 LEXMATCH
-MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619681 LEXMATCH
-MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619681 LEXMATCH
-MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619681 LEXMATCH
-MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619681 LEXMATCH
-MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:closeMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619701 LEXMATCH
-MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:closeMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619701 LEXMATCH
-MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:closeMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619701 LEXMATCH
-MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:closeMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619701 LEXMATCH
-MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:closeMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619701 LEXMATCH
-MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:closeMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619743 LEXMATCH
-MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:closeMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619743 LEXMATCH
-MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:closeMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619743 LEXMATCH
-MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:closeMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619743 LEXMATCH
-MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:closeMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619743 LEXMATCH
-MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:closeMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619908 LEXMATCH
-MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:closeMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619908 LEXMATCH
-MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:closeMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619908 LEXMATCH
-MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:closeMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619908 LEXMATCH
-MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:closeMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619908 LEXMATCH
-MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620011 LEXMATCH
-MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620011 LEXMATCH
-MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620011 LEXMATCH
-MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620011 LEXMATCH
-MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620011 LEXMATCH
-MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:closeMatch DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620029 LEXMATCH
-MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:closeMatch DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620029 LEXMATCH
-MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:closeMatch DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620029 LEXMATCH
-MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:closeMatch DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620029 LEXMATCH
-MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:closeMatch DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620029 LEXMATCH
-MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:closeMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620070 LEXMATCH
-MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:closeMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620070 LEXMATCH
-MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:closeMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620070 LEXMATCH
-MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:closeMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620070 LEXMATCH
-MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:closeMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620070 LEXMATCH
-MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:closeMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620080 LEXMATCH
-MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:closeMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620080 LEXMATCH
-MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:closeMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620080 LEXMATCH
-MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:closeMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620080 LEXMATCH
-MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:closeMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620080 LEXMATCH
-MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:closeMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620106 LEXMATCH
-MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:closeMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620106 LEXMATCH
-MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:closeMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620106 LEXMATCH
-MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:closeMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620106 LEXMATCH
-MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:closeMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620106 LEXMATCH
-MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620139 LEXMATCH
-MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620139 LEXMATCH
-MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620139 LEXMATCH
-MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620139 LEXMATCH
-MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620139 LEXMATCH
-MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620167 LEXMATCH
-MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620167 LEXMATCH
-MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620167 LEXMATCH
-MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620167 LEXMATCH
-MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620167 LEXMATCH
-MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620199 LEXMATCH
-MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620199 LEXMATCH
-MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620199 LEXMATCH
-MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620199 LEXMATCH
-MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620199 LEXMATCH
-MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620221 LEXMATCH
-MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620221 LEXMATCH
-MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620221 LEXMATCH
-MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620221 LEXMATCH
-MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620221 LEXMATCH
-MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620275 LEXMATCH
-MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620275 LEXMATCH
-MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620275 LEXMATCH
-MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620275 LEXMATCH
-MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620275 LEXMATCH
-MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620285 LEXMATCH
-MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620285 LEXMATCH
-MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620285 LEXMATCH
-MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620285 LEXMATCH
-MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620285 LEXMATCH
-MONDO:0859568 macular dystrophy, retinal, 4 skos:closeMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619977 LEXMATCH
-MONDO:0859568 macular dystrophy, retinal, 4 skos:closeMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619977 LEXMATCH
-MONDO:0859568 macular dystrophy, retinal, 4 skos:closeMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619977 LEXMATCH
-MONDO:0859568 macular dystrophy, retinal, 4 skos:closeMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619977 LEXMATCH
-MONDO:0859568 macular dystrophy, retinal, 4 skos:closeMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619977 LEXMATCH
-MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620192 LEXMATCH
-MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620192 LEXMATCH
-MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620192 LEXMATCH
-MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620192 LEXMATCH
-MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620192 LEXMATCH
-MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620193 LEXMATCH
-MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620193 LEXMATCH
-MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620193 LEXMATCH
-MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620193 LEXMATCH
-MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620193 LEXMATCH
-MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301107 LEXMATCH
-MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301107 LEXMATCH
-MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301107 LEXMATCH
-MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301107 LEXMATCH
-MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301107 LEXMATCH
-MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620310 LEXMATCH
-MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620310 LEXMATCH
-MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620310 LEXMATCH
-MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620310 LEXMATCH
-MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620310 LEXMATCH
-MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:closeMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620323 LEXMATCH
-MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:closeMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620323 LEXMATCH
-MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:closeMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620323 LEXMATCH
-MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:closeMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620323 LEXMATCH
-MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:closeMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620323 LEXMATCH
-MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:closeMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620326 LEXMATCH
-MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:closeMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620326 LEXMATCH
-MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:closeMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620326 LEXMATCH
-MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:closeMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620326 LEXMATCH
-MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:closeMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620326 LEXMATCH
-MONDO:0957247 congenital myopathy 22A, classic skos:closeMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620351 LEXMATCH
-MONDO:0957247 congenital myopathy 22A, classic skos:closeMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620351 LEXMATCH
-MONDO:0957247 congenital myopathy 22A, classic skos:closeMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620351 LEXMATCH
-MONDO:0957247 congenital myopathy 22A, classic skos:closeMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620351 LEXMATCH
-MONDO:0957247 congenital myopathy 22A, classic skos:closeMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620351 LEXMATCH
-MONDO:0957248 developmental and epileptic encephalopathy 31B skos:closeMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620352 LEXMATCH
-MONDO:0957248 developmental and epileptic encephalopathy 31B skos:closeMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620352 LEXMATCH
-MONDO:0957248 developmental and epileptic encephalopathy 31B skos:closeMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620352 LEXMATCH
-MONDO:0957248 developmental and epileptic encephalopathy 31B skos:closeMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620352 LEXMATCH
-MONDO:0957248 developmental and epileptic encephalopathy 31B skos:closeMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620352 LEXMATCH
-MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:closeMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620358 LEXMATCH
-MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:closeMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620358 LEXMATCH
-MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:closeMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620358 LEXMATCH
-MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:closeMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620358 LEXMATCH
-MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:closeMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620358 LEXMATCH
-MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:closeMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620359 LEXMATCH
-MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:closeMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620359 LEXMATCH
-MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:closeMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620359 LEXMATCH
-MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:closeMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620359 LEXMATCH
-MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:closeMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620359 LEXMATCH
-MONDO:0957265 congenital myopathy 22B, severe fetal skos:closeMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620369 LEXMATCH
-MONDO:0957265 congenital myopathy 22B, severe fetal skos:closeMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620369 LEXMATCH
-MONDO:0957265 congenital myopathy 22B, severe fetal skos:closeMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620369 LEXMATCH
-MONDO:0957265 congenital myopathy 22B, severe fetal skos:closeMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620369 LEXMATCH
-MONDO:0957265 congenital myopathy 22B, severe fetal skos:closeMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620369 LEXMATCH
-MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:closeMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620379 LEXMATCH
-MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:closeMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620379 LEXMATCH
-MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:closeMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620379 LEXMATCH
-MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:closeMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620379 LEXMATCH
-MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:closeMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620379 LEXMATCH
-MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:closeMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620386 LEXMATCH
-MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:closeMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620386 LEXMATCH
-MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:closeMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620386 LEXMATCH
-MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:closeMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620386 LEXMATCH
-MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:closeMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620386 LEXMATCH
-MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:closeMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620389 LEXMATCH
-MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:closeMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620389 LEXMATCH
-MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:closeMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620389 LEXMATCH
-MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:closeMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620389 LEXMATCH
-MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:closeMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620389 LEXMATCH
-MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620416 LEXMATCH
-MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620416 LEXMATCH
-MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620416 LEXMATCH
-MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620416 LEXMATCH
-MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620416 LEXMATCH
-MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620417 LEXMATCH
-MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620417 LEXMATCH
-MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620417 LEXMATCH
-MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620417 LEXMATCH
-MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620417 LEXMATCH
-MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620428 LEXMATCH
-MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620428 LEXMATCH
-MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620428 LEXMATCH
-MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620428 LEXMATCH
-MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620428 LEXMATCH
-MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620452 LEXMATCH
-MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620452 LEXMATCH
-MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620452 LEXMATCH
-MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620452 LEXMATCH
-MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620452 LEXMATCH
-MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620455 LEXMATCH
-MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620455 LEXMATCH
-MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620455 LEXMATCH
-MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620455 LEXMATCH
-MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620455 LEXMATCH
-MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:closeMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620482 LEXMATCH
-MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:closeMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620482 LEXMATCH
-MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:closeMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620482 LEXMATCH
-MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:closeMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620482 LEXMATCH
-MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:closeMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620482 LEXMATCH
-MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620489 LEXMATCH
-MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620489 LEXMATCH
-MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620489 LEXMATCH
-MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620489 LEXMATCH
-MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620489 LEXMATCH
-MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:closeMatch DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620535 LEXMATCH
-MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:closeMatch DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620535 LEXMATCH
-MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:closeMatch DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620535 LEXMATCH
-MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:closeMatch DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620535 LEXMATCH
-MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:closeMatch DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620535 LEXMATCH
-MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:closeMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620312 LEXMATCH
-MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:closeMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620312 LEXMATCH
-MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:closeMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620312 LEXMATCH
-MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:closeMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620312 LEXMATCH
-MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:closeMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620312 LEXMATCH
-MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:closeMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620313 LEXMATCH
-MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:closeMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620313 LEXMATCH
-MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:closeMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620313 LEXMATCH
-MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:closeMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620313 LEXMATCH
-MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:closeMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620313 LEXMATCH
-MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:closeMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620314 LEXMATCH
-MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:closeMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620314 LEXMATCH
-MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:closeMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620314 LEXMATCH
-MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:closeMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620314 LEXMATCH
-MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:closeMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620314 LEXMATCH
-MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620315 LEXMATCH
-MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620315 LEXMATCH
-MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620315 LEXMATCH
-MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620315 LEXMATCH
-MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620315 LEXMATCH
-MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:closeMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620402 LEXMATCH
-MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:closeMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620402 LEXMATCH
-MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:closeMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620402 LEXMATCH
-MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:closeMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620402 LEXMATCH
-MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:closeMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620402 LEXMATCH
-MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:closeMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620528 LEXMATCH
-MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:closeMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620528 LEXMATCH
-MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:closeMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620528 LEXMATCH
-MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:closeMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620528 LEXMATCH
-MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:closeMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620528 LEXMATCH
-MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:closeMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620542 LEXMATCH
-MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:closeMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620542 LEXMATCH
-MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:closeMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620542 LEXMATCH
-MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:closeMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620542 LEXMATCH
-MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:closeMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620542 LEXMATCH
-MONDO:0957928 otosclerosis 11 skos:closeMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620576 LEXMATCH
-MONDO:0957928 otosclerosis 11 skos:closeMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620576 LEXMATCH
-MONDO:0957928 otosclerosis 11 skos:closeMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620576 LEXMATCH
-MONDO:0957928 otosclerosis 11 skos:closeMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620576 LEXMATCH
-MONDO:0957928 otosclerosis 11 skos:closeMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620576 LEXMATCH
-MONDO:0958184 epidermolytic hyperkeratosis 2 skos:closeMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620150 LEXMATCH
-MONDO:0958184 epidermolytic hyperkeratosis 2 skos:closeMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620150 LEXMATCH
-MONDO:0958184 epidermolytic hyperkeratosis 2 skos:closeMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620150 LEXMATCH
-MONDO:0958184 epidermolytic hyperkeratosis 2 skos:closeMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620150 LEXMATCH
-MONDO:0958184 epidermolytic hyperkeratosis 2 skos:closeMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620150 LEXMATCH
-MONDO:0958189 basal cell nevus syndrome 2 skos:closeMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620343 LEXMATCH
-MONDO:0958189 basal cell nevus syndrome 2 skos:closeMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620343 LEXMATCH
-MONDO:0958189 basal cell nevus syndrome 2 skos:closeMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620343 LEXMATCH
-MONDO:0958189 basal cell nevus syndrome 2 skos:closeMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620343 LEXMATCH
-MONDO:0958189 basal cell nevus syndrome 2 skos:closeMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620343 LEXMATCH
-MONDO:0958190 prolonged electroretinal response suppression 2 skos:closeMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620344 LEXMATCH
-MONDO:0958190 prolonged electroretinal response suppression 2 skos:closeMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620344 LEXMATCH
-MONDO:0958190 prolonged electroretinal response suppression 2 skos:closeMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620344 LEXMATCH
-MONDO:0958190 prolonged electroretinal response suppression 2 skos:closeMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620344 LEXMATCH
-MONDO:0958190 prolonged electroretinal response suppression 2 skos:closeMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620344 LEXMATCH
-MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:closeMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620465 LEXMATCH
-MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:closeMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620465 LEXMATCH
-MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:closeMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620465 LEXMATCH
-MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:closeMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620465 LEXMATCH
-MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:closeMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620465 LEXMATCH
+MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:g61.81 LEXMATCH
+MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020277 LEXMATCH
+MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID doid:2536 LEXMATCH
+MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic inflammatory demyelinating polyneuritis LEXMATCH
+MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006702 LEXMATCH
+MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:relatedMatch-INVERSE mondo:0006702 LEXMATCH
+MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref icd10cm:g61.81 LEXMATCH
+MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d020277 LEXMATCH
+MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 skos:relatedMatch rdf:ID doid:2536 LEXMATCH
+MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128230 LEXMATCH
+MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:128230 LEXMATCH
+MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive LEXMATCH
+MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:128230 LEXMATCH
+MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:128230 LEXMATCH
+MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:128230 LEXMATCH
+MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch DOID:0081432 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251230 LEXMATCH
+MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch DOID:0081432 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:251230 LEXMATCH
+MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch DOID:0081432 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251230 LEXMATCH
+MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch DOID:0081432 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:251230 LEXMATCH
+MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch DOID:0081432 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:251230 LEXMATCH
+MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:270 LEXMATCH
+MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601358 LEXMATCH
+MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:601358 LEXMATCH
+MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome LEXMATCH
+MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601358 LEXMATCH
+MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:601358 LEXMATCH
+MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:601358 LEXMATCH
+MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 LEXMATCH
+MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614863 LEXMATCH
+MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614863 LEXMATCH
+MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614863 LEXMATCH
+MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614863 LEXMATCH
+MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch DOID:0081434 Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 LEXMATCH
+MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch DOID:0081434 Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614867 LEXMATCH
+MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch DOID:0081434 Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614867 LEXMATCH
+MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch DOID:0081434 Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614867 LEXMATCH
+MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch DOID:0081434 Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614867 LEXMATCH
+MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch DOID:0081435 Peroxisome biogenesis disorder 6B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 LEXMATCH
+MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch DOID:0081435 Peroxisome biogenesis disorder 6B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614871 LEXMATCH
+MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch DOID:0081435 Peroxisome biogenesis disorder 6B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614871 LEXMATCH
+MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch DOID:0081435 Peroxisome biogenesis disorder 6B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614871 LEXMATCH
+MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch DOID:0081435 Peroxisome biogenesis disorder 6B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614871 LEXMATCH
+MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch DOID:0081436 Peroxisome biogenesis disorder 7B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 LEXMATCH
+MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch DOID:0081436 Peroxisome biogenesis disorder 7B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614873 LEXMATCH
+MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch DOID:0081436 Peroxisome biogenesis disorder 7B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614873 LEXMATCH
+MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch DOID:0081436 Peroxisome biogenesis disorder 7B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614873 LEXMATCH
+MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch DOID:0081436 Peroxisome biogenesis disorder 7B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614873 LEXMATCH
+MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch DOID:0081437 Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 LEXMATCH
+MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch DOID:0081437 Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614877 LEXMATCH
+MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch DOID:0081437 Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614877 LEXMATCH
+MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch DOID:0081437 Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614877 LEXMATCH
+MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch DOID:0081437 Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614877 LEXMATCH
+MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch DOID:0081438 Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 LEXMATCH
+MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch DOID:0081438 Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614879 LEXMATCH
+MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch DOID:0081438 Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614879 LEXMATCH
+MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch DOID:0081438 Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614879 LEXMATCH
+MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch DOID:0081438 Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614879 LEXMATCH
+MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 LEXMATCH
+MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614885 LEXMATCH
+MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614885 LEXMATCH
+MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614885 LEXMATCH
+MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614885 LEXMATCH
+MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617284 LEXMATCH
+MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4310633 LEXMATCH
+MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617284 LEXMATCH
+MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617284 LEXMATCH
+MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c4310633 LEXMATCH
+MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617284 LEXMATCH
+MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617284 LEXMATCH
+MONDO:0025691 dystonia 30 skos:closeMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619291 LEXMATCH
+MONDO:0025691 dystonia 30 skos:closeMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619291 LEXMATCH
+MONDO:0025691 dystonia 30 skos:closeMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619291 LEXMATCH
+MONDO:0025691 dystonia 30 skos:closeMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619291 LEXMATCH
+MONDO:0025691 dystonia 30 skos:closeMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619291 LEXMATCH
+MONDO:0030455 dystonia 31 skos:closeMatch DOID:0060938 dystonia 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619565 LEXMATCH
+MONDO:0030455 dystonia 31 skos:closeMatch DOID:0060938 dystonia 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619565 LEXMATCH
+MONDO:0030455 dystonia 31 skos:closeMatch DOID:0060938 dystonia 31 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619565 LEXMATCH
+MONDO:0030455 dystonia 31 skos:closeMatch DOID:0060938 dystonia 31 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619565 LEXMATCH
+MONDO:0030455 dystonia 31 skos:closeMatch DOID:0060938 dystonia 31 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619565 LEXMATCH
+MONDO:0030486 dystonia 32 skos:closeMatch DOID:0060939 dystonia 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619637 LEXMATCH
+MONDO:0030486 dystonia 32 skos:closeMatch DOID:0060939 dystonia 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619637 LEXMATCH
+MONDO:0030486 dystonia 32 skos:closeMatch DOID:0060939 dystonia 32 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619637 LEXMATCH
+MONDO:0030486 dystonia 32 skos:closeMatch DOID:0060939 dystonia 32 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619637 LEXMATCH
+MONDO:0030486 dystonia 32 skos:closeMatch DOID:0060939 dystonia 32 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619637 LEXMATCH
+MONDO:0030513 dystonia 33 skos:closeMatch DOID:0060940 dystonia 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619687 LEXMATCH
+MONDO:0030513 dystonia 33 skos:closeMatch DOID:0060940 dystonia 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619687 LEXMATCH
+MONDO:0030513 dystonia 33 skos:closeMatch DOID:0060940 dystonia 33 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619687 LEXMATCH
+MONDO:0030513 dystonia 33 skos:closeMatch DOID:0060940 dystonia 33 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619687 LEXMATCH
+MONDO:0030513 dystonia 33 skos:closeMatch DOID:0060940 dystonia 33 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619687 LEXMATCH
+MONDO:0030538 dystonia 34, myoclonic skos:closeMatch DOID:0060957 myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619724 LEXMATCH
+MONDO:0030538 dystonia 34, myoclonic skos:closeMatch DOID:0060957 myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619724 LEXMATCH
+MONDO:0030538 dystonia 34, myoclonic skos:closeMatch DOID:0060957 myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619724 LEXMATCH
+MONDO:0030538 dystonia 34, myoclonic skos:closeMatch DOID:0060957 myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619724 LEXMATCH
+MONDO:0030538 dystonia 34, myoclonic skos:closeMatch DOID:0060957 myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619724 LEXMATCH
+MONDO:0030958 dystonia 35, childhood-onset skos:closeMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619921 LEXMATCH
+MONDO:0030958 dystonia 35, childhood-onset skos:closeMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619921 LEXMATCH
+MONDO:0030958 dystonia 35, childhood-onset skos:closeMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619921 LEXMATCH
+MONDO:0030958 dystonia 35, childhood-onset skos:closeMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619921 LEXMATCH
+MONDO:0030958 dystonia 35, childhood-onset skos:closeMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619921 LEXMATCH
+MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618505 LEXMATCH
+MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618505 LEXMATCH
+MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618505 LEXMATCH
+MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618505 LEXMATCH
+MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618505 LEXMATCH
+MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:closeMatch DOID:0070539 Halperin-Birk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618651 LEXMATCH
+MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:closeMatch DOID:0070539 Halperin-Birk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618651 LEXMATCH
+MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:closeMatch DOID:0070539 Halperin-Birk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies LEXMATCH
+MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:closeMatch DOID:0070539 Halperin-Birk syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618651 LEXMATCH
+MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:closeMatch DOID:0070539 Halperin-Birk syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618651 LEXMATCH
+MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:closeMatch DOID:0070539 Halperin-Birk syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618651 LEXMATCH
+MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch DOID:0081440 Peroxisome biogenesis disorder 10B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 LEXMATCH
+MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch DOID:0081440 Peroxisome biogenesis disorder 10B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617370 LEXMATCH
+MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch DOID:0081440 Peroxisome biogenesis disorder 10B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617370 LEXMATCH
+MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch DOID:0081440 Peroxisome biogenesis disorder 10B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617370 LEXMATCH
+MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch DOID:0081440 Peroxisome biogenesis disorder 10B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617370 LEXMATCH
+MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617604 LEXMATCH
+MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617604 LEXMATCH
+MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617604 LEXMATCH
+MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617604 LEXMATCH
+MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617604 LEXMATCH
+MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619293 LEXMATCH
+MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619293 LEXMATCH
+MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619293 LEXMATCH
+MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619293 LEXMATCH
+MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619293 LEXMATCH
+MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:closeMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620242 LEXMATCH
+MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:closeMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620242 LEXMATCH
+MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:closeMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620242 LEXMATCH
+MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:closeMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620242 LEXMATCH
+MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:closeMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620242 LEXMATCH
+MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:closeMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620245 LEXMATCH
+MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:closeMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620245 LEXMATCH
+MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:closeMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620245 LEXMATCH
+MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:closeMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620245 LEXMATCH
+MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:closeMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620245 LEXMATCH
+MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:closeMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620427 LEXMATCH
+MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:closeMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620427 LEXMATCH
+MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:closeMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620427 LEXMATCH
+MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:closeMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620427 LEXMATCH
+MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:closeMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620427 LEXMATCH
+MONDO:0957539 dystonia 22, juvenile-onset skos:closeMatch DOID:0060966 dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620453 LEXMATCH
+MONDO:0957539 dystonia 22, juvenile-onset skos:closeMatch DOID:0060966 dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620453 LEXMATCH
+MONDO:0957539 dystonia 22, juvenile-onset skos:closeMatch DOID:0060966 dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620453 LEXMATCH
+MONDO:0957539 dystonia 22, juvenile-onset skos:closeMatch DOID:0060966 dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620453 LEXMATCH
+MONDO:0957539 dystonia 22, juvenile-onset skos:closeMatch DOID:0060966 dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620453 LEXMATCH
+MONDO:0957542 dystonia 22, adult-onset skos:closeMatch DOID:0060967 dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620456 LEXMATCH
+MONDO:0957542 dystonia 22, adult-onset skos:closeMatch DOID:0060967 dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620456 LEXMATCH
+MONDO:0957542 dystonia 22, adult-onset skos:closeMatch DOID:0060967 dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620456 LEXMATCH
+MONDO:0957542 dystonia 22, adult-onset skos:closeMatch DOID:0060967 dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620456 LEXMATCH
+MONDO:0957542 dystonia 22, adult-onset skos:closeMatch DOID:0060967 dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620456 LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv
index fbd125cf..36021aaf 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv
@@ -1027,7 +1027,6 @@ MONDO:0002443 bruxism skos:closeMatch ICD10CM:G47.63 Sleep related bruxism semap
MONDO:0002449 nodular degeneration of cornea skos:closeMatch ICD10CM:H18.45 Nodular corneal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:2879 LEXMATCH
MONDO:0002449 nodular degeneration of cornea skos:closeMatch ICD10CM:H18.45 Nodular corneal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:2879 LEXMATCH
MONDO:0002457 Treacher-Collins syndrome skos:closeMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:2908 LEXMATCH
-MONDO:0002457 Treacher-Collins syndrome skos:closeMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome LEXMATCH
MONDO:0002457 Treacher-Collins syndrome skos:closeMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:2908 LEXMATCH
MONDO:0002459 type IV hypersensitivity disease skos:closeMatch ICD10CM:C88.9 Malignant immunoproliferative disease, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:2916 LEXMATCH
MONDO:0002459 type IV hypersensitivity disease skos:closeMatch ICD10CM:C88.9 Malignant immunoproliferative disease, unspecified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:2916 LEXMATCH
@@ -2217,10 +2216,8 @@ MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch ICD10CM:C53.0 Mal
MONDO:0006170 conjunctival disorder skos:closeMatch ICD10CM:H11.9 Unspecified disorder of conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:4251 LEXMATCH
MONDO:0006170 conjunctival disorder skos:closeMatch ICD10CM:H11.9 Unspecified disorder of conjunctiva semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:4251 LEXMATCH
MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch ICD10CM:D35.2 Benign neoplasm of pituitary gland semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006238 LEXMATCH
-MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch ICD10CM:J84.81 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis LEXMATCH
MONDO:0006295 malignant urinary system neoplasm skos:closeMatch ICD10CM:C68.9 Malignant neoplasm of urinary organ, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:3996 LEXMATCH
MONDO:0006295 malignant urinary system neoplasm skos:closeMatch ICD10CM:C68.9 Malignant neoplasm of urinary organ, unspecified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:3996 LEXMATCH
-MONDO:0006361 penile fibromatosis skos:closeMatch ICD10CM:N48.6 Induration penis plastica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peyronie's disease LEXMATCH
MONDO:0006373 pituitary gland adenoma skos:closeMatch ICD10CM:D35.2 Benign neoplasm of pituitary gland semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006373 LEXMATCH
MONDO:0006456 thymoma skos:closeMatch ICD10CM:D15.0 Benign neoplasm of thymus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006456 LEXMATCH
MONDO:0006500 hemangioma skos:closeMatch ICD10CM:D18.0 Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:255 LEXMATCH
@@ -2321,9 +2318,6 @@ MONDO:0006683 brachial plexus neuropathy skos:closeMatch ICD10CM:G54.0 Brachial
MONDO:0006683 brachial plexus neuropathy skos:closeMatch ICD10CM:G54.0 Brachial plexus disorders semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:3690 LEXMATCH
MONDO:0006700 choroid cancer skos:closeMatch ICD10CM:C69.3 Malignant neoplasm of choroid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:12759 LEXMATCH
MONDO:0006700 choroid cancer skos:closeMatch ICD10CM:C69.3 Malignant neoplasm of choroid semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:12759 LEXMATCH
-MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch ICD10CM:G61.81 Chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:5213 LEXMATCH
-MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch ICD10CM:G61.81 Chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006702 LEXMATCH
-MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch ICD10CM:G61.81 Chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:5213 LEXMATCH
MONDO:0006712 corneal edema skos:closeMatch ICD10CM:H18.20 Unspecified corneal edema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11030 LEXMATCH
MONDO:0006712 corneal edema skos:closeMatch ICD10CM:H18.20 Unspecified corneal edema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11030 LEXMATCH
MONDO:0006713 corneal neovascularization skos:closeMatch ICD10CM:H16.4 Corneal neovascularization semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11382 LEXMATCH
@@ -2680,7 +2674,6 @@ MONDO:0007698 hand-foot-genital syndrome skos:closeMatch ICD10CM:Q51.2 Other dou
MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch ICD10CM:E85.0 Non-neuropathic heredofamilial amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090018 LEXMATCH
MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch ICD10CM:E85.0 Non-neuropathic heredofamilial amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0090018 LEXMATCH
MONDO:0007732 Holt-Oram syndrome skos:closeMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060468 LEXMATCH
-MONDO:0007732 Holt-Oram syndrome skos:closeMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holt-oram syndrome LEXMATCH
MONDO:0007732 Holt-Oram syndrome skos:closeMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060468 LEXMATCH
MONDO:0007739 Huntington disease skos:closeMatch ICD10CM:G10 Huntington's disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:12858 LEXMATCH
MONDO:0007739 Huntington disease skos:closeMatch ICD10CM:G10 Huntington's disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:12858 LEXMATCH
@@ -2750,7 +2743,6 @@ MONDO:0007972 Meniere disease skos:closeMatch ICD10CM:H81.0 Ménière's dise
MONDO:0007972 Meniere disease skos:closeMatch ICD10CM:H81.0 Ménière's disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:9849 LEXMATCH
MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch ICD10CM:G43 Migraine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine LEXMATCH
MONDO:0008006 Mobius syndrome skos:closeMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:13501 LEXMATCH
-MONDO:0008006 Mobius syndrome skos:closeMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome LEXMATCH
MONDO:0008006 Mobius syndrome skos:closeMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:13501 LEXMATCH
MONDO:0008007 tooth ankylosis skos:closeMatch ICD10CM:K03.5 Ankylosis of teeth semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:12661 LEXMATCH
MONDO:0008007 tooth ankylosis skos:closeMatch ICD10CM:K03.5 Ankylosis of teeth semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:12661 LEXMATCH
@@ -2795,7 +2787,6 @@ MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch ICD10CM:G71.09
MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch ICD10CM:H47.03 Optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0111531 LEXMATCH
MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch ICD10CM:H47.03 Optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia LEXMATCH
MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch ICD10CM:H47.03 Optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0111531 LEXMATCH
-MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch ICD10CM:H47.033 Optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia, bilateral LEXMATCH
MONDO:0008137 orofaciodigital syndrome X skos:closeMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060380 LEXMATCH
MONDO:0008137 orofaciodigital syndrome X skos:closeMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060380 LEXMATCH
MONDO:0008145 Ollier disease skos:closeMatch ICD10CM:Q78.4 Enchondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:4624 LEXMATCH
@@ -2889,7 +2880,6 @@ MONDO:0008412 intestinal schistosomiasis skos:closeMatch ICD10CM:B65.2 Schistoso
MONDO:0008412 intestinal schistosomiasis skos:closeMatch ICD10CM:B65.2 Schistosomiasis due to Schistosoma japonicum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0050597 LEXMATCH
MONDO:0008434 Smith-Magenis syndrome skos:closeMatch ICD10CM:Q93.5 Other deletions of part of a chromosome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060768 LEXMATCH
MONDO:0008434 Smith-Magenis syndrome skos:closeMatch ICD10CM:Q93.5 Other deletions of part of a chromosome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060768 LEXMATCH
-MONDO:0008434 Smith-Magenis syndrome skos:closeMatch ICD10CM:Q93.88 Other microdeletions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-magenis syndrome LEXMATCH
MONDO:0008449 spina bifida skos:closeMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0080016 LEXMATCH
MONDO:0008449 spina bifida skos:closeMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0080016 LEXMATCH
MONDO:0008464 split hand-foot malformation 1 skos:closeMatch ICD10CM:Q71.6 Lobster-claw hand semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090021 LEXMATCH
@@ -3088,7 +3078,6 @@ MONDO:0009144 Ebstein anomaly skos:closeMatch ICD10CM:Q22.5 Ebstein's anomaly se
MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch ICD10CM:E03.1 Congenital hypothyroidism without goiter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0070125 LEXMATCH
MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch ICD10CM:E03.1 Congenital hypothyroidism without goiter semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0070125 LEXMATCH
MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:12714 LEXMATCH
-MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ellis-van creveld syndrome LEXMATCH
MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch ICD10CM:Q77.6 Chondroectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:12714 LEXMATCH
MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch ICD10CM:Q81.2 Epidermolysis bullosa dystrophica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060642 LEXMATCH
MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch ICD10CM:Q81.2 Epidermolysis bullosa dystrophica semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060642 LEXMATCH
@@ -4288,6 +4277,8 @@ MONDO:0012743 Brugada syndrome 4 skos:closeMatch ICD10CM:I49.8 Other specified c
MONDO:0012743 Brugada syndrome 4 skos:closeMatch ICD10CM:I49.8 Other specified cardiac arrhythmias semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110221 LEXMATCH
MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch ICD10CM:Q34.8 Other specified congenital malformations of respiratory system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110605 LEXMATCH
MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch ICD10CM:Q34.8 Other specified congenital malformations of respiratory system semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110605 LEXMATCH
+MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch ICD10CM:Q93.5 Other deletions of part of a chromosome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE doid:0070515 LEXMATCH
+MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch ICD10CM:Q93.5 Other deletions of part of a chromosome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:broadMatch-INVERSE doid:0070515 LEXMATCH
MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch ICD10CM:I47.2 Ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060676 LEXMATCH
MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch ICD10CM:I47.2 Ventricular tachycardia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012762 LEXMATCH
MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch ICD10CM:I47.2 Ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060676 LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv
new file mode 100644
index 00000000..1c7d3731
--- /dev/null
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv
@@ -0,0 +1,8 @@
+subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
+MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060450 LEXMATCH
+MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:0060450 LEXMATCH
+MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band-shaped and whorled microcystic corneal epithelial dystrophy LEXMATCH
+MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, lisch epithelial LEXMATCH
+MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, lisch epithelial LEXMATCH
+MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060450 LEXMATCH
+MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:0060450 LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv
index dc7bcc5d..549e6bf1 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv
@@ -1,5 +1,6 @@
subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIMPS:144200 Palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma, epidermolytic LEXMATCH
+MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIMPS:220150 Hypouricemia, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal LEXMATCH
MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:3012 LEXMATCH
MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:3012 LEXMATCH
MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018875 LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv
index 2b5fb380..036cb7fd 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv
@@ -1,43 +1,10 @@
subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
-MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:closeMatch Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150550 LEXMATCH
-MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:closeMatch Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150550 LEXMATCH
-MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:closeMatch Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:150550 LEXMATCH
MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 LEXMATCH
MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176400 LEXMATCH
MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:176400 LEXMATCH
-MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 LEXMATCH
-MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254090 LEXMATCH
-MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:254090 LEXMATCH
-MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 LEXMATCH
-MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254090 LEXMATCH
-MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:254090 LEXMATCH
-MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600987 LEXMATCH
-MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600987 LEXMATCH
-MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:600987 LEXMATCH
-MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:647834 SLC40A1-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606069 LEXMATCH
-MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:647834 SLC40A1-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606069 LEXMATCH
-MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:647834 SLC40A1-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606069 LEXMATCH
-MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616863 LEXMATCH
-MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616863 LEXMATCH
-MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616863 LEXMATCH
-MONDO:0015999 primary pigmented nodular adrenocortical disease skos:closeMatch Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4304832 LEXMATCH
-MONDO:0015999 primary pigmented nodular adrenocortical disease skos:closeMatch Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c4304832 LEXMATCH
-MONDO:0022972 diabetic mastopathy skos:closeMatch Orphanet:653698 Lymphocytic mastitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphocytic mastopathy LEXMATCH
-MONDO:0022972 diabetic mastopathy skos:closeMatch Orphanet:653698 Lymphocytic mastitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerosing lymphocytic lobulitis LEXMATCH
-MONDO:0022972 diabetic mastopathy skos:closeMatch Orphanet:653698 Lymphocytic mastitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphocytic mastitis LEXMATCH
-MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 LEXMATCH
-MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158810 LEXMATCH
-MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:158810 LEXMATCH
-MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 LEXMATCH
-MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158810 LEXMATCH
-MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:158810 LEXMATCH
-MONDO:0024781 immunodeficiency 102 skos:closeMatch Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301082 LEXMATCH
-MONDO:0024781 immunodeficiency 102 skos:closeMatch Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301082 LEXMATCH
-MONDO:0024781 immunodeficiency 102 skos:closeMatch Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301082 LEXMATCH
-MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618493 LEXMATCH
-MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618493 LEXMATCH
-MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618493 LEXMATCH
-MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617641 LEXMATCH
-MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617641 LEXMATCH
-MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617641 LEXMATCH
-MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:closeMatch Orphanet:658813 Methylenetetrahydrofolate dehydrogenase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylenetetrahydrofolate dehydrogenase 1 deficiency LEXMATCH
+MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 LEXMATCH
+MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254090 LEXMATCH
+MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:254090 LEXMATCH
+MONDO:0024530 Bethlem myopathy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 LEXMATCH
+MONDO:0024530 Bethlem myopathy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158810 LEXMATCH
+MONDO:0024530 Bethlem myopathy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:158810 LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv
index a3b86255..9c2a9869 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv
@@ -1,5 +1,4 @@
subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
-MONDO:0000158 developmental dysplasia of the hip skos:exactMatch DOID:0060930 developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:142700 LEXMATCH
MONDO:0000275 obsolete monogenic disease skos:exactMatch DOID:0050177 monogenic disease semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0000348 obsolete posterior polar cataract skos:exactMatch DOID:0050537 posterior polar cataract semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0000601 obsolete autoimmune disorder of urogenital tract skos:exactMatch DOID:0060049 autoimmune disease of urogenital tract semapv:UnspecifiedMatching MONDO_MAPPINGS
@@ -25,231 +24,43 @@ MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch DOID:7267 lung
MONDO:0004268 obsolete subareolar duct papillomatosis skos:exactMatch DOID:7533 subareolar duct papillomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0004391 obsolete adult extraosseous chondrosarcoma skos:exactMatch DOID:7902 adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0004398 mediastinal schwannoma skos:exactMatch DOID:7922 obsolete benign mediastinal neurilemmoma semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0005111 Epstein-Barr virus infection skos:exactMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d020031 LEXMATCH
MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 sensory system disease semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch DOID:0080684 diffuse midline glioma, H3 K27M-mutant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse intrinsic pontine glioma LEXMATCH
-MONDO:0006260 kidney medullary carcinoma skos:exactMatch DOID:0070475 SMARCB1-deficient renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kidney medullary carcinoma LEXMATCH
-MONDO:0006260 kidney medullary carcinoma skos:exactMatch DOID:0070475 SMARCB1-deficient renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal medullary carcinoma LEXMATCH
-MONDO:0006260 kidney medullary carcinoma skos:exactMatch DOID:0070475 SMARCB1-deficient renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kidney medullary carcinoma LEXMATCH
-MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions skos:exactMatch DOID:0081415 TFE3-rearranged renal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cell carcinoma associated with xp11.2 translocations/tfe3 gene fusions LEXMATCH
-MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions skos:exactMatch DOID:0081415 TFE3-rearranged renal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tfe3-rearranged renal cell carcinoma LEXMATCH
-MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions skos:exactMatch DOID:0081415 TFE3-rearranged renal cell carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal cell carcinoma associated with xp11.2 translocations/tfe3 gene fusions LEXMATCH
MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch DOID:2653 benign fibrous mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007628 foveal hypoplasia 1 skos:exactMatch DOID:0070530 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:136520 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:exactMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c537835 LEXMATCH
-MONDO:0007630 North Carolina macular dystrophy skos:exactMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:136550 LEXMATCH
-MONDO:0007729 developmental dysplasia of the hip 1 skos:exactMatch DOID:0060931 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:142700 LEXMATCH
-MONDO:0007872 LADD syndrome skos:exactMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:149730 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:exactMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d000071070 LEXMATCH
-MONDO:0007909 familial multiple lipomatosis skos:exactMatch DOID:0070518 familial multiple lipomatosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:151900 LEXMATCH
-MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:162210 LEXMATCH
-MONDO:0008164 otosclerosis 1 skos:exactMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:166800 LEXMATCH
-MONDO:0008672 Watson syndrome skos:exactMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:193520 LEXMATCH
-MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:220110 LEXMATCH
-MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch DOID:0080400 orofacial cleft 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zlotogora-ogur syndrome LEXMATCH
-MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:exactMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:239300 LEXMATCH
-MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:256040 LEXMATCH
-MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym antiquitin deficiency LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536632 LEXMATCH
-MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:269150 LEXMATCH
-MONDO:0010209 xanthinuria type I skos:exactMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:278300 LEXMATCH
-MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch DOID:0070538 syndromic X-linked intellectual developmental disorder bain type semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:300986 LEXMATCH
-MONDO:0010857 semantic dementia skos:exactMatch DOID:0081391 semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia LEXMATCH
-MONDO:0011346 xanthinuria type II skos:exactMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:603592 LEXMATCH
-MONDO:0011586 otosclerosis 2 skos:exactMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:605727 LEXMATCH
-MONDO:0011773 anauxetic dysplasia skos:exactMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia, menger type LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:exactMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c564309 LEXMATCH
-MONDO:0011937 peeling skin syndrome 4 skos:exactMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:607936 LEXMATCH
-MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c562746 LEXMATCH
-MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch DOID:0070517 retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608051 LEXMATCH
-MONDO:0011999 otosclerosis 3 skos:exactMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608244 LEXMATCH
-MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608779 LEXMATCH
-MONDO:0012121 otosclerosis 5 skos:exactMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608787 LEXMATCH
-MONDO:0012139 macular dystrophy, retinal, 3 skos:exactMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608850 LEXMATCH
+MONDO:0007495 dystonia 5 skos:exactMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:128230 LEXMATCH
+MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch DOID:0081432 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:251230 LEXMATCH
+MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:601358 LEXMATCH
MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch DOID:0070531 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609218 LEXMATCH
-MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609446 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:exactMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536316 LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:exactMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609796 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567020 LEXMATCH
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611087 LEXMATCH
-MONDO:0012669 Legius syndrome skos:exactMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c548032 LEXMATCH
-MONDO:0012669 Legius syndrome skos:exactMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611431 LEXMATCH
-MONDO:0012696 otosclerosis 4 skos:exactMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611571 LEXMATCH
-MONDO:0012697 otosclerosis 7 skos:exactMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611572 LEXMATCH
-MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611913 LEXMATCH
-MONDO:0012797 otosclerosis 8 skos:exactMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:612096 LEXMATCH
-MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch DOID:0070487 dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome LEXMATCH
-MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567730 LEXMATCH
-MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:exactMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614207 LEXMATCH
-MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:exactMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614749 LEXMATCH
-MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:exactMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615228 LEXMATCH
-MONDO:0014264 otosclerosis 10 skos:exactMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615589 LEXMATCH
-MONDO:0014277 developmental dysplasia of the hip 2 skos:exactMatch DOID:0060932 developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615612 LEXMATCH
-MONDO:0014299 schwannomatosis 2 skos:exactMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615670 LEXMATCH
-MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:exactMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615716 LEXMATCH
-MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:exactMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 4 LEXMATCH
-MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615889 LEXMATCH
-MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:exactMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615919 LEXMATCH
-MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:exactMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616025 LEXMATCH
-MONDO:0014555 peeling skin syndrome type A skos:exactMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616265 LEXMATCH
-MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:exactMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616267 LEXMATCH
-MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch DOID:0070526 PLACK syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616295 LEXMATCH
-MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616657 LEXMATCH
-MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:exactMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 6 LEXMATCH
-MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:exactMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616809 LEXMATCH
-MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:exactMatch DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616900 LEXMATCH
-MONDO:0014923 peeling skin syndrome 5 skos:exactMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617115 LEXMATCH
-MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:exactMatch DOID:0081422 familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617116 LEXMATCH
-MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:exactMatch DOID:0081423 familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617118 LEXMATCH
-MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:exactMatch DOID:0070529 Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617159 LEXMATCH
-MONDO:0014958 Harel-Yoon syndrome skos:exactMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617183 LEXMATCH
-MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:exactMatch DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617282 LEXMATCH
-MONDO:0015059 progressive non-fluent aphasia skos:exactMatch DOID:0081390 progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia LEXMATCH
-MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:239300 LEXMATCH
-MONDO:0016644 logopenic progressive aphasia skos:exactMatch DOID:0081389 logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia LEXMATCH
+MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614863 LEXMATCH
+MONDO:0013933 peroxisome biogenesis disorder 5B skos:exactMatch DOID:0081434 Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614867 LEXMATCH
+MONDO:0013937 peroxisome biogenesis disorder 6B skos:exactMatch DOID:0081435 Peroxisome biogenesis disorder 6B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614871 LEXMATCH
+MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch DOID:0081436 Peroxisome biogenesis disorder 7B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614873 LEXMATCH
+MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch DOID:0081437 Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614877 LEXMATCH
+MONDO:0013945 peroxisome biogenesis disorder 9B skos:exactMatch DOID:0081438 Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614879 LEXMATCH
+MONDO:0013950 peroxisome biogenesis disorder 11B skos:exactMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614885 LEXMATCH
+MONDO:0015004 dystonia 28, childhood-onset skos:exactMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617284 LEXMATCH
MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0017886 MIT family translocation renal cell carcinoma skos:exactMatch DOID:0081413 renal cell carcinoma with MiT translocations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mit family translocation renal cell carcinoma LEXMATCH
-MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:exactMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618049 LEXMATCH
MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch DOID:0050594 glycogen storage disease IX semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0018808 Caroli syndrome skos:exactMatch DOID:0081394 Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome LEXMATCH
-MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616878 LEXMATCH
-MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:151623 LEXMATCH
-MONDO:0019349 Sotos syndrome skos:exactMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:117550 LEXMATCH
-MONDO:0019806 primary progressive aphasia skos:exactMatch DOID:0081388 primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia LEXMATCH
-MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch DOID:0081420 familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:604364 LEXMATCH
-MONDO:0020730 carpal tunnel syndrome 1 skos:exactMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:115430 LEXMATCH
-MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:exactMatch DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:266100 LEXMATCH
-MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:exactMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618387 LEXMATCH
-MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:exactMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618120 LEXMATCH
MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0024507 aniridia 1 skos:exactMatch DOID:0070532 aniridia 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:106210 LEXMATCH
-MONDO:0024517 schwannomatosis 1 skos:exactMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:162091 LEXMATCH
-MONDO:0024548 peeling skin syndrome 1 skos:exactMatch DOID:0070520 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:270300 LEXMATCH
-MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:exactMatch DOID:0081421 familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:604364 LEXMATCH
-MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:exactMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:604391 LEXMATCH
MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:exactMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618832 LEXMATCH
-MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:exactMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618855 LEXMATCH
-MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618906 LEXMATCH
-MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618912 LEXMATCH
-MONDO:0030073 Mitchell syndrome skos:exactMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618960 LEXMATCH
-MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:exactMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619386 LEXMATCH
-MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:exactMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619425 LEXMATCH
-MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:exactMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619477 LEXMATCH
-MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:exactMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619478 LEXMATCH
-MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:exactMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619423 LEXMATCH
-MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:exactMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619737 LEXMATCH
-MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:exactMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619780 LEXMATCH
-MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:exactMatch DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619112 LEXMATCH
-MONDO:0030883 carpal tunnel syndrome 2 skos:exactMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619161 LEXMATCH
-MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619133 LEXMATCH
-MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:exactMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619175 LEXMATCH
-MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:exactMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619183 LEXMATCH
-MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:exactMatch DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619216 LEXMATCH
-MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619966 LEXMATCH
-MONDO:0031166 macular dystrophy, retinal skos:exactMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:136550 LEXMATCH
-MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:exactMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:616901 LEXMATCH
-MONDO:0032756 long qt syndrome 8 skos:exactMatch DOID:0110649 long QT syndrome 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618447 LEXMATCH
-MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618500 LEXMATCH
-MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:exactMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618528 LEXMATCH
-MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:exactMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618567 LEXMATCH
-MONDO:0032915 long QT syndrome 16 skos:exactMatch DOID:0070533 long QT syndrome 16 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618782 LEXMATCH
-MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618810 LEXMATCH
-MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:exactMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618811 LEXMATCH
-MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618815 LEXMATCH
-MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:exactMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618972 LEXMATCH
-MONDO:0033618 Vissers-Bodmer syndrome skos:exactMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619033 LEXMATCH
-MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:exactMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619046 LEXMATCH
-MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:exactMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619048 LEXMATCH
-MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:exactMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619051 LEXMATCH
-MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:exactMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619052 LEXMATCH
-MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:exactMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619053 LEXMATCH
-MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:exactMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619054 LEXMATCH
-MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:exactMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619055 LEXMATCH
-MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:exactMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619058 LEXMATCH
-MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:exactMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619059 LEXMATCH
-MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:exactMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619060 LEXMATCH
-MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:exactMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619061 LEXMATCH
-MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:exactMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619062 LEXMATCH
-MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:exactMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619063 LEXMATCH
-MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:exactMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619064 LEXMATCH
-MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:exactMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619065 LEXMATCH
-MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH
-MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH
-MONDO:0044315 craniosynostosis 7 skos:exactMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617439 LEXMATCH
-MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617672 LEXMATCH
-MONDO:0054560 anauxetic dysplasia 1 skos:exactMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:607095 LEXMATCH
-MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617591 LEXMATCH
-MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:exactMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618048 LEXMATCH
-MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617892 LEXMATCH
-MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:exactMatch DOID:0081424 familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617935 LEXMATCH
-MONDO:0054835 classic dopamine transporter deficiency syndrome skos:exactMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:613135 LEXMATCH
-MONDO:0054852 peeling skin syndrome 6 skos:exactMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618084 LEXMATCH
-MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617755 LEXMATCH
-MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:exactMatch DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617862 LEXMATCH
-MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617921 LEXMATCH
+MONDO:0025691 dystonia 30 skos:exactMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619291 LEXMATCH
+MONDO:0030455 dystonia 31 skos:exactMatch DOID:0060938 dystonia 31 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619565 LEXMATCH
+MONDO:0030486 dystonia 32 skos:exactMatch DOID:0060939 dystonia 32 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619637 LEXMATCH
+MONDO:0030513 dystonia 33 skos:exactMatch DOID:0060940 dystonia 33 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619687 LEXMATCH
+MONDO:0030538 dystonia 34, myoclonic skos:exactMatch DOID:0060957 myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619724 LEXMATCH
+MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619921 LEXMATCH
+MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:exactMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618505 LEXMATCH
+MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:exactMatch DOID:0070539 Halperin-Birk syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618651 LEXMATCH
+MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:exactMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym donson-related microcephaly-short stature-limb abnormalities spectrum LEXMATCH
+MONDO:0054549 peroxisome biogenesis disorder 10B skos:exactMatch DOID:0081440 Peroxisome biogenesis disorder 10B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617370 LEXMATCH
+MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:exactMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617604 LEXMATCH
MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620062 LEXMATCH
-MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch DOID:0070487 dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome LEXMATCH
-MONDO:0700200 atypical dopamine transporter deficiency syndrome skos:exactMatch DOID:0070488 atypical dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dopamine transporter deficiency syndrome LEXMATCH
-MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616901 LEXMATCH
-MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619333 LEXMATCH
-MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:exactMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619355 LEXMATCH
-MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619480 LEXMATCH
-MONDO:0859209 Zaki syndrome skos:exactMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619648 LEXMATCH
-MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:exactMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619681 LEXMATCH
-MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619701 LEXMATCH
-MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:exactMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619743 LEXMATCH
-MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:exactMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619908 LEXMATCH
-MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:exactMatch DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620011 LEXMATCH
-MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:exactMatch DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620029 LEXMATCH
-MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620070 LEXMATCH
-MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 skos:exactMatch DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620080 LEXMATCH
-MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:exactMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620106 LEXMATCH
-MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:exactMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620139 LEXMATCH
-MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:exactMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620167 LEXMATCH
-MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620199 LEXMATCH
-MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:exactMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620221 LEXMATCH
-MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:exactMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620275 LEXMATCH
-MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:exactMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620285 LEXMATCH
-MONDO:0859568 macular dystrophy, retinal, 4 skos:exactMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619977 LEXMATCH
-MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:exactMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620192 LEXMATCH
-MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:exactMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620193 LEXMATCH
-MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:exactMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301107 LEXMATCH
-MONDO:0957215 congenital myopathy 20 skos:exactMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620310 LEXMATCH
-MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:exactMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620323 LEXMATCH
-MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:exactMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620326 LEXMATCH
-MONDO:0957247 congenital myopathy 22A, classic skos:exactMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620351 LEXMATCH
-MONDO:0957248 developmental and epileptic encephalopathy 31B skos:exactMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620352 LEXMATCH
-MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:exactMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620358 LEXMATCH
-MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:exactMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620359 LEXMATCH
-MONDO:0957265 congenital myopathy 22B, severe fetal skos:exactMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620369 LEXMATCH
-MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:exactMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620379 LEXMATCH
-MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:exactMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620386 LEXMATCH
-MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:exactMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620389 LEXMATCH
-MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:exactMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620416 LEXMATCH
-MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:exactMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620417 LEXMATCH
-MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:exactMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620428 LEXMATCH
-MONDO:0957497 disabling pansclerotic morphea of childhood skos:exactMatch DOID:0081373 disabling pansclerotic morphea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disabling pansclerotic morphea of childhood LEXMATCH
-MONDO:0957538 amyotrophic lateral sclerosis 28 skos:exactMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620452 LEXMATCH
-MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:exactMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620455 LEXMATCH
-MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development skos:exactMatch DOID:0070486 Parkinson's disease 25 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620482 LEXMATCH
-MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620489 LEXMATCH
-MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies skos:exactMatch DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620535 LEXMATCH
-MONDO:0957870 leukoencephalopathy with vanishing white matter 2 skos:exactMatch DOID:0070373 leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620312 LEXMATCH
-MONDO:0957871 leukoencephalopathy with vanishing white matter 3 skos:exactMatch DOID:0070372 leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620313 LEXMATCH
-MONDO:0957872 leukoencephalopathy with vanishing white matter 4 skos:exactMatch DOID:0070371 leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620314 LEXMATCH
-MONDO:0957873 leukoencephalopathy with vanishing white matter 5 skos:exactMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620315 LEXMATCH
-MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 skos:exactMatch DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620402 LEXMATCH
-MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:exactMatch DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620528 LEXMATCH
-MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 skos:exactMatch DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620542 LEXMATCH
-MONDO:0957928 otosclerosis 11 skos:exactMatch DOID:0060928 otosclerosis 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620576 LEXMATCH
-MONDO:0958184 epidermolytic hyperkeratosis 2 skos:exactMatch DOID:0081359 epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620150 LEXMATCH
-MONDO:0958189 basal cell nevus syndrome 2 skos:exactMatch DOID:0070366 nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620343 LEXMATCH
-MONDO:0958190 prolonged electroretinal response suppression 2 skos:exactMatch DOID:0070364 bradyopsia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620344 LEXMATCH
-MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay skos:exactMatch DOID:0070472 early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620465 LEXMATCH
+MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:exactMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619293 LEXMATCH
+MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:exactMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620242 LEXMATCH
+MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:exactMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620245 LEXMATCH
+MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:exactMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620427 LEXMATCH
+MONDO:0957539 dystonia 22, juvenile-onset skos:exactMatch DOID:0060966 dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620453 LEXMATCH
+MONDO:0957542 dystonia 22, adult-onset skos:exactMatch DOID:0060967 dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620456 LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv
index 6742d2b4..f76c3273 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv
@@ -400,6 +400,7 @@ MONDO:0002440 erythropoietin polycythemia skos:exactMatch ICD10CM:D75.1 Secondar
MONDO:0002443 bruxism skos:exactMatch ICD10CM:F45.8 Other somatoform disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym teeth grinding LEXMATCH
MONDO:0002443 bruxism skos:exactMatch ICD10CM:G47.63 Sleep related bruxism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep related bruxism LEXMATCH
MONDO:0002457 Treacher-Collins syndrome skos:exactMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym franceschetti syndrome LEXMATCH
+MONDO:0002457 Treacher-Collins syndrome skos:exactMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym treacher collins syndrome LEXMATCH
MONDO:0002462 glomerulonephritis skos:exactMatch ICD10CM:N08 Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glomerulonephritis LEXMATCH
MONDO:0002462 glomerulonephritis skos:exactMatch ICD10CM:N08 Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomerulonephritis LEXMATCH
MONDO:0002465 bronchiolitis skos:exactMatch ICD10CM:J21.9 Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bronchiolitis LEXMATCH
@@ -973,6 +974,7 @@ MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melker
MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melkersson's syndrome LEXMATCH
MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch ICD10CM:G51.2 Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melkersson-rosenthal syndrome LEXMATCH
MONDO:0007972 Meniere disease skos:exactMatch ICD10CM:H81.39 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otogenic vertigo LEXMATCH
+MONDO:0008006 Mobius syndrome skos:exactMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym moebius syndrome LEXMATCH
MONDO:0008007 tooth ankylosis skos:exactMatch ICD10CM:K03.5 Ankylosis of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankylosis of teeth LEXMATCH
MONDO:0008009 monilethrix skos:exactMatch ICD10CM:Q84.1 Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monilethrix LEXMATCH
MONDO:0008009 monilethrix skos:exactMatch ICD10CM:Q84.1 Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monilethrix LEXMATCH
@@ -981,6 +983,7 @@ MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch ICD10CM:
MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant centronuclear myopathy LEXMATCH
MONDO:0008054 juvenile dermatomyositis skos:exactMatch ICD10CM:M33.0 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile dermatomyositis LEXMATCH
MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch ICD10CM:G71.11 Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystrophia myotonica LEXMATCH
+MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch ICD10CM:G71.11 Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myotonic dystrophy LEXMATCH
MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch ICD10CM:G71.11 Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steinert disease LEXMATCH
MONDO:0008061 nail-patella syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nail patella syndrome LEXMATCH
MONDO:0008075 schwannomatosis skos:exactMatch ICD10CM:Q85.03 Schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schwannomatosis LEXMATCH
@@ -990,6 +993,8 @@ MONDO:0008090 cyclic hematopoiesis skos:exactMatch ICD10CM:D70.4 Cyclic neutrope
MONDO:0008114 obsessive-compulsive disorder skos:exactMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anancastic neurosis LEXMATCH
MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopharyngeal muscular dystrophy LEXMATCH
MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch ICD10CM:G71.09 Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculopharyngeal muscular dystrophy LEXMATCH
+MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch ICD10CM:H47.03 Optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic nerve hypoplasia LEXMATCH
+MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch ICD10CM:H47.033 Optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic nerve hypoplasia, bilateral LEXMATCH
MONDO:0008145 Ollier disease skos:exactMatch ICD10CM:Q78.4 Enchondromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ollier's disease LEXMATCH
MONDO:0008170 ovarian cancer skos:exactMatch ICD10CM:C56 Malignant neoplasm of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ovary LEXMATCH
MONDO:0008171 nephrolithiasis skos:exactMatch ICD10CM:N20 Calculus of kidney and ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label calculus of kidney and ureter LEXMATCH
@@ -1107,6 +1112,7 @@ MONDO:0009254 fucosidosis skos:exactMatch ICD10CM:E77.1 Defects in glycoprotein
MONDO:0009255 galactokinase deficiency skos:exactMatch ICD10CM:E74.29 Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galactokinase deficiency LEXMATCH
MONDO:0009255 galactokinase deficiency skos:exactMatch ICD10CM:E74.29 Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym galactokinase deficiency LEXMATCH
MONDO:0009275 neonatal hemochromatosis skos:exactMatch ICD10CM:P78.84 Gestational alloimmune liver disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal hemochromatosis LEXMATCH
+MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch ICD10CM:E71.313 Glutaric aciduria type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutaric aciduria type ii LEXMATCH
MONDO:0009290 glycogen storage disease II skos:exactMatch ICD10CM:E74.02 Pompe disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pompe disease LEXMATCH
MONDO:0009291 glycogen storage disease III skos:exactMatch ICD10CM:E74.03 Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forbes disease LEXMATCH
MONDO:0009291 glycogen storage disease III skos:exactMatch ICD10CM:E74.03 Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cori disease LEXMATCH
@@ -1134,6 +1140,7 @@ MONDO:0009528 chylomicron retention disease skos:exactMatch ICD10CM:E78.3 Hyperc
MONDO:0009528 chylomicron retention disease skos:exactMatch ICD10CM:E78.3 Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylomicron retention disease LEXMATCH
MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch ICD10CM:Q93.88 Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym miller-dieker syndrome LEXMATCH
MONDO:0009650 mucolipidosis type II skos:exactMatch ICD10CM:E77.0 Defects in post-translational modification of lysosomal enzymes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucolipidosis ii LEXMATCH
+MONDO:0009653 mucolipidosis type IV skos:exactMatch ICD10CM:E75.11 Mucolipidosis IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucolipidosis iv LEXMATCH
MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch ICD10CM:E76.210 Morquio A mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome a LEXMATCH
MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch ICD10CM:E76.211 Morquio B mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome b LEXMATCH
MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch ICD10CM:E76.29 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-glucuronidase deficiency LEXMATCH
@@ -1156,6 +1163,8 @@ MONDO:0009846 pentosuria skos:exactMatch ICD10CM:E74.89 Other specified disorder
MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch ICD10CM:D51.0 Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital intrinsic factor deficiency LEXMATCH
MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch ICD10CM:J84.115 Respiratory bronchiolitis interstitial lung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label respiratory bronchiolitis interstitial lung disease LEXMATCH
MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch ICD10CM:J84.117 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desquamative interstitial pneumonia LEXMATCH
+MONDO:0009902 cutaneous porphyria skos:exactMatch ICD10CM:E80.0 Hereditary erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital erythropoietic porphyria LEXMATCH
+MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch ICD10CM:E83.39 Other disorders of phosphorus metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypophosphatasia LEXMATCH
MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch ICD10CM:Q82.8 Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital poikiloderma LEXMATCH
MONDO:0010008 sarcosinemia skos:exactMatch ICD10CM:E72.59 Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcosinemia LEXMATCH
MONDO:0010008 sarcosinemia skos:exactMatch ICD10CM:E72.59 Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcosinemia LEXMATCH
@@ -1167,6 +1176,7 @@ MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD
MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency LEXMATCH
MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency LEXMATCH
MONDO:0010085 Schilder disease skos:exactMatch ICD10CM:G37.0 Diffuse sclerosis of central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schilder's disease LEXMATCH
+MONDO:0010088 mucosulfatidosis skos:exactMatch ICD10CM:E75.26 Sulfatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple sulfatase deficiency LEXMATCH
MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch ICD10CM:E72.19 Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sulfite oxidase deficiency LEXMATCH
MONDO:0010096 tardive dyskinesia skos:exactMatch ICD10CM:G24.01 Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tardive dyskinesia LEXMATCH
MONDO:0010096 tardive dyskinesia skos:exactMatch ICD10CM:G24.01 Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tardive dyskinesia LEXMATCH
@@ -1206,6 +1216,7 @@ MONDO:0011284 astigmatism skos:exactMatch ICD10CM:H52.2 Astigmatism semapv:Lexic
MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.1 Sickle-cell disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-ss disease without crisis LEXMATCH
MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.2 Sickle-cell/Hb-C disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-s/hb-c disease LEXMATCH
MONDO:0011382 sickle cell anemia skos:exactMatch ICD10CM:D57.20 Sickle-cell/Hb-C disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell/hb-c disease without crisis LEXMATCH
+MONDO:0011405 poikiloderma with neutropenia skos:exactMatch ICD10CM:L28.1 Prurigo nodularis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prurigo nodularis LEXMATCH
MONDO:0011438 acne skos:exactMatch ICD10CM:L70 Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne LEXMATCH
MONDO:0011438 acne skos:exactMatch ICD10CM:L70.0 Acne vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne vulgaris LEXMATCH
MONDO:0011438 acne skos:exactMatch ICD10CM:L70.2 Acne varioliformis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne varioliformis LEXMATCH
@@ -1321,6 +1332,7 @@ MONDO:0016025 myoclonic-astatic epilepsy skos:exactMatch ICD10CM:G40.4 Other gen
MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym de lange syndrome LEXMATCH
MONDO:0016035 Nelson syndrome skos:exactMatch ICD10CM:E24.1 Nelson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nelson's syndrome LEXMATCH
MONDO:0016052 atypical autism skos:exactMatch ICD10CM:F84.9 Pervasive developmental disorder, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical autism LEXMATCH
+MONDO:0016057 isolated encephalocele skos:exactMatch ICD10CM:Q01 Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalocele LEXMATCH
MONDO:0016064 cleft palate skos:exactMatch ICD10CM:Q35 Cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate LEXMATCH
MONDO:0016066 sternal cleft skos:exactMatch ICD10CM:Q76.7 Congenital malformation of sternum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sternum bifidum LEXMATCH
MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:exactMatch ICD10CM:A81.09 Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sporadic creutzfeldt-jakob disease LEXMATCH
@@ -1377,8 +1389,10 @@ MONDO:0017198 osteopetrosis skos:exactMatch ICD10CM:Q78.2 Osteopetrosis semapv:L
MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch ICD10CM:N01 Rapidly progressive nephritic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rapidly progressive glomerulonephritis LEXMATCH
MONDO:0017255 panuveitis skos:exactMatch ICD10CM:H44.11 Panuveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panuveitis LEXMATCH
MONDO:0017276 frontotemporal dementia skos:exactMatch ICD10CM:G31.0 Frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia LEXMATCH
+MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch ICD10CM:D68.61 Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antiphospholipid syndrome LEXMATCH
MONDO:0017304 ocular albinism skos:exactMatch ICD10CM:E70.31 Ocular albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular albinism LEXMATCH
MONDO:0017362 neuralgic amyotrophy skos:exactMatch ICD10CM:G54.5 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgic amyotrophy LEXMATCH
+MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:exactMatch ICD10CM:J82.81 Chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic eosinophilic pneumonia LEXMATCH
MONDO:0017373 poliomyelitis skos:exactMatch ICD10CM:A80 Acute poliomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute poliomyelitis LEXMATCH
MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.1 Postdysenteric arthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postdysenteric arthropathy LEXMATCH
MONDO:0017376 reactive arthritis skos:exactMatch ICD10CM:M02.3 Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reactive arthritis LEXMATCH
@@ -1535,6 +1549,7 @@ MONDO:0019087 cholangiocarcinoma skos:exactMatch ICD10CM:C22.1 Intrahepatic bile
MONDO:0019087 cholangiocarcinoma skos:exactMatch ICD10CM:C22.1 Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholangiocarcinoma LEXMATCH
MONDO:0019088 post-transplant lymphoproliferative disease skos:exactMatch ICD10CM:D47.Z1 Post-transplant lymphoproliferative disorder (PTLD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-transplant lymphoproliferative disorder LEXMATCH
MONDO:0019100 neuromyelitis optica skos:exactMatch ICD10CM:G36.0 Neuromyelitis optica [Devic] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neuromyelitis optica LEXMATCH
+MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:exactMatch ICD10CM:J82.82 Acute eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute eosinophilic pneumonia LEXMATCH
MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch ICD10CM:D68.59 Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protein c deficiency LEXMATCH
MONDO:0019147 myiasis skos:exactMatch ICD10CM:B87 Myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myiasis LEXMATCH
MONDO:0019147 myiasis skos:exactMatch ICD10CM:B87.9 Myiasis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myiasis, unspecified LEXMATCH
@@ -1546,6 +1561,7 @@ MONDO:0019165 central precocious puberty skos:exactMatch ICD10CM:E22.8 Other hyp
MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch ICD10CM:D69.0 Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura rheumatica LEXMATCH
MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch ICD10CM:D69.0 Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic purpura LEXMATCH
MONDO:0019168 pyomyositis skos:exactMatch ICD10CM:M60.0 Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tropical pyomyositis LEXMATCH
+MONDO:0019171 familial long QT syndrome skos:exactMatch ICD10CM:I45.81 Long QT syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome LEXMATCH
MONDO:0019172 aniridia skos:exactMatch ICD10CM:Q13.1 Absence of iris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aniridia LEXMATCH
MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch ICD10CM:Q13.81 Rieger's anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rieger's anomaly LEXMATCH
MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch ICD10CM:Q87.2 Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rubinstein-taybi syndrome LEXMATCH
@@ -1563,6 +1579,7 @@ MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch ICD10CM:E7
MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch ICD10CM:E75.4 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spielmeyer-vogt disease LEXMATCH
MONDO:0019280 hypertrichosis skos:exactMatch ICD10CM:L68 Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis LEXMATCH
MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch ICD10CM:Q82.4 Ectodermal dysplasia (anhidrotic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectodermal dysplasia LEXMATCH
+MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch ICD10CM:K76.81 Hepatopulmonary syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hepatopulmonary syndrome LEXMATCH
MONDO:0019314 cutaneous mastocytoma skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solitary mastocytoma LEXMATCH
MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse cutaneous mastocytosis LEXMATCH
MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse cutaneous mastocytosis LEXMATCH
@@ -1610,6 +1627,7 @@ MONDO:0019498 tungiasis skos:exactMatch ICD10CM:B88.1 Tungiasis [sandflea infest
MONDO:0019499 Turner syndrome skos:exactMatch ICD10CM:Q96.0 Karyotype 45, X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label karyotype 45, x LEXMATCH
MONDO:0019507 amelogenesis imperfecta skos:exactMatch ICD10CM:K00.5 Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta LEXMATCH
MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch ICD10CM:M31.0 Hypersensitivity angiitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypersensitivity angiitis LEXMATCH
+MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch ICD10CM:D59.11 Warm autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label warm autoimmune hemolytic anemia LEXMATCH
MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch ICD10CM:D59.6 Hemoglobinuria due to hemolysis from other external causes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paroxysmal cold hemoglobinuria LEXMATCH
MONDO:0019537 hemoglobin D disease skos:exactMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-d disease LEXMATCH
MONDO:0019547 Wells syndrome skos:exactMatch ICD10CM:L98.3 Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic cellulitis LEXMATCH
@@ -1650,10 +1668,12 @@ MONDO:0019975 pellagra skos:exactMatch ICD10CM:E52 Niacin deficiency [pellagra]
MONDO:0019975 pellagra skos:exactMatch ICD10CM:E52 Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pellagra LEXMATCH
MONDO:0019975 pellagra skos:exactMatch ICD10CM:E52 Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pellagra LEXMATCH
MONDO:0019978 Robinow syndrome skos:exactMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow-silverman-smith syndrome LEXMATCH
+MONDO:0020007 absence of the pulmonary artery skos:exactMatch ICD10CM:Q25.79 Other congenital malformations of pulmonary artery semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agenesis of pulmonary artery LEXMATCH
MONDO:0020076 myeloproliferative neoplasm skos:exactMatch ICD10CM:D47.1 Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic myeloproliferative disease LEXMATCH
MONDO:0020110 pulmonary agenesis skos:exactMatch ICD10CM:Q33.3 Agenesis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of lung LEXMATCH
MONDO:0020115 secondary polycythemia skos:exactMatch ICD10CM:D75.1 Secondary polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary polycythemia LEXMATCH
MONDO:0020159 congenital entropion skos:exactMatch ICD10CM:Q10.2 Congenital entropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital entropion LEXMATCH
+MONDO:0020290 familial atrioventricular septal defect skos:exactMatch ICD10CM:Q21.2 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular septal defect LEXMATCH
MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch ICD10CM:C93.1 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic myelomonocytic leukemia LEXMATCH
MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch ICD10CM:C92.0 Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia m2 LEXMATCH
MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch ICD10CM:C85.2 Mediastinal (thymic) large B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mediastinal (thymic) large b-cell lymphoma LEXMATCH
@@ -1769,6 +1789,7 @@ MONDO:0022430 persistent fetal circulation syndrome skos:exactMatch ICD10CM:P29.
MONDO:0022792 coccygodynia skos:exactMatch ICD10CM:M53.3 Sacrococcygeal disorders, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coccygodynia LEXMATCH
MONDO:0022968 dextrocardia with situs inversus skos:exactMatch ICD10CM:Q89.3 Situs inversus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dextrocardia with situs inversus LEXMATCH
MONDO:0023011 Wilson-Mikity syndrome skos:exactMatch ICD10CM:P27.0 Wilson-Mikity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson-mikity syndrome LEXMATCH
+MONDO:0023149 infection due to clostridium perfringens skos:exactMatch ICD10CM:A48.0 Gas gangrene semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clostridial myonecrosis LEXMATCH
MONDO:0023153 tuberculous ascites skos:exactMatch ICD10CM:A18.31 Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous ascites LEXMATCH
MONDO:0023153 tuberculous ascites skos:exactMatch ICD10CM:A18.31 Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous ascites LEXMATCH
MONDO:0023161 viral myocarditis skos:exactMatch ICD10CM:B33.22 Viral myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral myocarditis LEXMATCH
@@ -1838,7 +1859,6 @@ MONDO:0042484 disseminated sporotrichosis skos:exactMatch ICD10CM:B42.7 Dissemin
MONDO:0043004 Weil's disease skos:exactMatch ICD10CM:A27.0 Leptospirosis icterohemorrhagica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weil's disease LEXMATCH
MONDO:0043004 Weil's disease skos:exactMatch ICD10CM:A27.0 Leptospirosis icterohemorrhagica semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym weil's disease LEXMATCH
MONDO:0043089 acute posterior multifocal placoid pigment epitheliopathy skos:exactMatch ICD10CM:H30.14 Acute posterior multifocal placoid pigment epitheliopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute posterior multifocal placoid pigment epitheliopathy LEXMATCH
-MONDO:0043187 pulmonary artery agenesis skos:exactMatch ICD10CM:Q25.79 Other congenital malformations of pulmonary artery semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agenesis of pulmonary artery LEXMATCH
MONDO:0043219 migraine with brainstem aura skos:exactMatch ICD10CM:G43.1 Migraine with aura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basilar migraine LEXMATCH
MONDO:0043230 ciguatera fish poisoning skos:exactMatch ICD10CM:T61.0 Ciguatera fish poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ciguatera fish poisoning LEXMATCH
MONDO:0043233 exfoliative dermatitis skos:exactMatch ICD10CM:L26 Exfoliative dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliative dermatitis LEXMATCH
@@ -1933,4 +1953,6 @@ MONDO:0858950 traumatic brain injury skos:exactMatch ICD10CM:S06 Intracranial in
MONDO:0859006 proximal femoral focal deficiency skos:exactMatch ICD10CM:Q72.4 Longitudinal reduction defect of femur semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym proximal femoral focal deficiency LEXMATCH
MONDO:0859565 atrioventricular septal defect skos:exactMatch ICD10CM:Q21.2 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect LEXMATCH
MONDO:0859598 erythroleukemia skos:exactMatch ICD10CM:C94.0 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythroleukemia LEXMATCH
+MONDO:0956962 benign teratoma skos:exactMatch ICD10CM:D28 Benign neoplasm of other and unspecified female genital organs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign teratoma LEXMATCH
+MONDO:0956980 vascular parkinsonism skos:exactMatch ICD10CM:G21.4 Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism LEXMATCH
MONDO:0958083 conjoined twins skos:exactMatch ICD10CM:Q89.4 Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv
index 687ec47f..018424c9 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv
@@ -844,6 +844,7 @@ MONDO:0010947 Budd-Chiari syndrome skos:exactMatch ICD10WHO:I82.0 Budd-Chiari sy
MONDO:0011122 obesity disorder skos:exactMatch ICD10WHO:E66 Obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obesity LEXMATCH
MONDO:0011284 astigmatism skos:exactMatch ICD10WHO:H52.2 Astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astigmatism LEXMATCH
MONDO:0011399 alpha thalassemia skos:exactMatch ICD10WHO:D56.0 Alpha thalassaemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpha thalassaemia LEXMATCH
+MONDO:0011405 poikiloderma with neutropenia skos:exactMatch ICD10WHO:L28.1 Prurigo nodularis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prurigo nodularis LEXMATCH
MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch ICD10WHO:M08.0 Juvenile rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile rheumatoid arthritis LEXMATCH
MONDO:0011438 acne skos:exactMatch ICD10WHO:L70 Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne LEXMATCH
MONDO:0011438 acne skos:exactMatch ICD10WHO:L70.0 Acne vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne vulgaris LEXMATCH
@@ -894,11 +895,13 @@ MONDO:0015622 wound myiasis skos:exactMatch ICD10WHO:B87.1 Wound myiasis semapv:
MONDO:0015661 dextrocardia skos:exactMatch ICD10WHO:Q24.0 Dextrocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dextrocardia LEXMATCH
MONDO:0015766 cholera skos:exactMatch ICD10WHO:A00 Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera LEXMATCH
MONDO:0015814 primary cutaneous follicle center lymphoma skos:exactMatch ICD10WHO:C82.6 Cutaneous follicle centre lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cutaneous follicle centre lymphoma LEXMATCH
+MONDO:0015986 bilateral renal agenesis skos:exactMatch ICD10WHO:Q60.1 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal agenesis, bilateral LEXMATCH
MONDO:0016008 fetal hydantoin syndrome skos:exactMatch ICD10WHO:Q86.1 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal hydantoin syndrome LEXMATCH
MONDO:0016011 fetal alcohol syndrome skos:exactMatch ICD10WHO:Q86.0 Fetal alcohol syndrome (dysmorphic) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal alcohol syndrome LEXMATCH
MONDO:0016020 frontal encephalocele skos:exactMatch ICD10WHO:Q01.0 Frontal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal encephalocele LEXMATCH
MONDO:0016035 Nelson syndrome skos:exactMatch ICD10WHO:E24.1 Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nelson syndrome LEXMATCH
MONDO:0016052 atypical autism skos:exactMatch ICD10WHO:F84.1 Atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism LEXMATCH
+MONDO:0016057 isolated encephalocele skos:exactMatch ICD10WHO:Q01 Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalocele LEXMATCH
MONDO:0016064 cleft palate skos:exactMatch ICD10WHO:Q35 Cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate LEXMATCH
MONDO:0016075 filariasis skos:exactMatch ICD10WHO:B74 Filariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filariasis LEXMATCH
MONDO:0016122 periodic paralysis skos:exactMatch ICD10WHO:G72.3 Periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis LEXMATCH
@@ -1083,6 +1086,7 @@ MONDO:0020121 muscular dystrophy skos:exactMatch ICD10WHO:G71.0 Muscular dystrop
MONDO:0020128 motor neuron disorder skos:exactMatch ICD10WHO:G12.2 Motor neuron disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label motor neuron disease LEXMATCH
MONDO:0020159 congenital entropion skos:exactMatch ICD10WHO:Q10.2 Congenital entropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital entropion LEXMATCH
MONDO:0020161 congenital ectropion skos:exactMatch ICD10WHO:Q10.1 Congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion LEXMATCH
+MONDO:0020290 familial atrioventricular septal defect skos:exactMatch ICD10WHO:Q21.2 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular septal defect LEXMATCH
MONDO:0020291 hypoplastic right heart syndrome skos:exactMatch ICD10WHO:Q22.6 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic right heart syndrome LEXMATCH
MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch ICD10WHO:C85.2 Mediastinal (thymic) large B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mediastinal (thymic) large b-cell lymphoma LEXMATCH
MONDO:0020334 mast cell leukemia skos:exactMatch ICD10WHO:C94.3 Mast cell leukaemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mast cell leukaemia LEXMATCH
@@ -1148,6 +1152,7 @@ MONDO:0024333 sciatica skos:exactMatch ICD10WHO:M54.3 Sciatica semapv:LexicalMat
MONDO:0024349 pityriasis alba skos:exactMatch ICD10WHO:L30.5 Pityriasis alba semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis alba LEXMATCH
MONDO:0024361 circadian rhythm sleep disorder skos:exactMatch ICD10WHO:G47.2 Disorders of the sleep-wake schedule semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorders of the sleep-wake schedule LEXMATCH
MONDO:0024376 sleep disorder, initiating and maintaining sleep skos:exactMatch ICD10WHO:G47.0 Disorders of initiating and maintaining sleep [insomnias] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of initiating and maintaining sleep LEXMATCH
+MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch ICD10WHO:D68.0 Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disease LEXMATCH
MONDO:0024633 hypertensive nephropathy skos:exactMatch ICD10WHO:I12 Hypertensive renal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertensive renal disease LEXMATCH
MONDO:0024647 urolithiasis skos:exactMatch ICD10WHO:N20-N23 Urolithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urolithiasis LEXMATCH
MONDO:0024650 drug-induced osteoporosis skos:exactMatch ICD10WHO:M81.4 Drug-induced osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced osteoporosis LEXMATCH
@@ -1216,4 +1221,5 @@ MONDO:0850046 amniotic fluid embolism skos:exactMatch ICD10WHO:O88.1 Amniotic fl
MONDO:0850231 erythema nodosum skos:exactMatch ICD10WHO:L52 Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum LEXMATCH
MONDO:0850301 pemphigoid skos:exactMatch ICD10WHO:L12 Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid LEXMATCH
MONDO:0859565 atrioventricular septal defect skos:exactMatch ICD10WHO:Q21.2 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect LEXMATCH
+MONDO:0956980 vascular parkinsonism skos:exactMatch ICD10WHO:G21.4 Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism LEXMATCH
MONDO:0958083 conjoined twins skos:exactMatch ICD10WHO:Q89.4 Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv
index fcdebea1..6cb3b4c5 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv
@@ -36,6 +36,7 @@ MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Mul
MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant thymoma LEXMATCH
MONDO:0006475 obsolete unclassified renal cell carcinoma skos:exactMatch NCIT:C27892 Unclassified Renal Cell Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm LEXMATCH
+MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch NCIT:C45630 Diffuse Pulmonary Lymphangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse pulmonary lymphangiomatosis LEXMATCH
MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:exactMatch NCIT:C7167 Myelodysplastic Syndrome with Excess Blasts-1 semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch NCIT:C199391 Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis LEXMATCH
MONDO:0015686 primary peritoneal carcinoma skos:exactMatch NCIT:C4182 Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous surface papillary carcinoma LEXMATCH
@@ -44,6 +45,7 @@ MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C27498 Infantile He
MONDO:0017289 fetal lung interstitial tumor skos:exactMatch NCIT:C190105 Fetal Lung Interstitial Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor LEXMATCH
MONDO:0017308 obsolete Marfan syndrome type 2 skos:exactMatch NCIT:C75007 Marfan Syndrome Type II semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0017884 papillary renal cell carcinoma skos:exactMatch NCIT:C27890 Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma LEXMATCH
+MONDO:0018017 goblet cell carcinoma skos:exactMatch NCIT:C201135 Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label goblet cell adenocarcinoma LEXMATCH
MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C39995 Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma LEXMATCH
MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch NCIT:C34710 Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia LEXMATCH
MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C8648 Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome, unclassifiable LEXMATCH
@@ -105,4 +107,17 @@ MONDO:0859598 erythroleukemia skos:exactMatch NCIT:C7152 Erythroleukemia semapv:
MONDO:0859747 grade I lymphomatoid granulomatosis skos:exactMatch NCIT:C7931 Grade I Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade i lymphomatoid granulomatosis LEXMATCH
MONDO:0859748 grade II lymphomatoid granulomatosis skos:exactMatch NCIT:C7932 Grade II Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade ii lymphomatoid granulomatosis LEXMATCH
MONDO:0859749 grade III lymphomatoid granulomatosis skos:exactMatch NCIT:C7933 Grade III Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade iii lymphomatoid granulomatosis LEXMATCH
+MONDO:0956962 benign teratoma skos:exactMatch NCIT:C67107 Benign Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign teratoma LEXMATCH
+MONDO:0956981 astrocytoma, IDH-mutant, grade 4 skos:exactMatch NCIT:C167335 Astrocytoma, IDH-Mutant, Grade 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade 4 LEXMATCH
+MONDO:0956989 CIC-rearranged sarcoma skos:exactMatch NCIT:C120224 CIC-Rearranged Sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cic-rearranged sarcoma LEXMATCH
+MONDO:0956994 astrocytoma, IDH-mutant, grade 2 skos:exactMatch NCIT:C129271 Astrocytoma, IDH-Mutant, Grade 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade 2 LEXMATCH
+MONDO:0956995 astrocytoma, IDH-mutant, grade 3 skos:exactMatch NCIT:C129290 Astrocytoma, IDH-Mutant, Grade 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade 3 LEXMATCH
+MONDO:0957196 diffuse midline glioma, H3 K27M-mutant skos:exactMatch NCIT:C129309 Diffuse Midline Glioma, H3 K27M-Mutant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse midline glioma, h3 k27m-mutant LEXMATCH
+MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma skos:exactMatch NCIT:C96058 Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monomorphic epitheliotropic intestinal t-cell lymphoma LEXMATCH
MONDO:0958119 embryonal tumor with multilayered rosettes skos:exactMatch NCIT:C186534 Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal tumor with multilayered rosettes LEXMATCH
+MONDO:0958159 sarcoma with BCOR genetic alterations skos:exactMatch NCIT:C178465 Sarcoma with BCOR Genetic Alterations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoma with bcor genetic alterations LEXMATCH
+MONDO:0958160 round cell sarcoma with EWSR1-non-ETS fusion skos:exactMatch NCIT:C178459 Round Cell Sarcoma with EWSR1-non-ETS Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with ewsr1-non-ets fusion LEXMATCH
+MONDO:0958161 B acute lymphoblastic leukemia with PAX5 P80R mutation skos:exactMatch NCIT:C199260 B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b acute lymphoblastic leukemia with pax5 p80r mutation LEXMATCH
+MONDO:0958162 B acute lymphoblastic leukemia with DUX4 rearrangement skos:exactMatch NCIT:C199232 B Acute Lymphoblastic Leukemia with DUX4 Rearrangement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b acute lymphoblastic leukemia with dux4 rearrangement LEXMATCH
+MONDO:0958164 poorly differentiated chordoma skos:exactMatch NCIT:C177898 Poorly Differentiated Chordoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poorly differentiated chordoma LEXMATCH
+MONDO:0958165 anaplastic sarcoma of the kidney skos:exactMatch NCIT:C154496 Anaplastic Sarcoma of the Kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic sarcoma of the kidney LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv
index e0db2dca..894fe956 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv
@@ -1,111 +1,116 @@
-subject_id subject_label predicate_id object_id object_label mapping_justification comment
-MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities skos:exactMatch OMIM:249660 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020615 obsolete blood group system, landsteiner-wiener skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, mn semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos:exactMatch OMIM:175020 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044235 obsolete hsr skos:exactMatch OMIM:139900 hand skill, relative semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044236 obsolete hepatitis b vaccine, response to skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044240 obsolete musical perfect pitch skos:exactMatch OMIM:159300 musical perfect pitch semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044246 obsolete nystagmus, voluntary skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044248 obsolete thiourea tasting skos:exactMatch OMIM:171200 thiourea tasting semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO_MAPPINGS
+subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
+MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities skos:exactMatch OMIM:249660 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0009941 obsolete Pygmy skos:exactMatch OMIM:265850 pygmy semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:300778 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lisch epithelial corneal dystrophy LEXMATCH
+MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lisch epithelial corneal dystrophy LEXMATCH
+MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch OMIM:607236 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020615 obsolete blood group system, landsteiner-wiener skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, mn semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos:exactMatch OMIM:175020 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044235 obsolete hsr skos:exactMatch OMIM:139900 hand skill, relative semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044236 obsolete hepatitis b vaccine, response to skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044240 obsolete musical perfect pitch skos:exactMatch OMIM:159300 musical perfect pitch semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044246 obsolete nystagmus, voluntary skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044248 obsolete thiourea tasting skos:exactMatch OMIM:171200 thiourea tasting semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS
+MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO_MAPPINGS
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv
index ec7dabc3..eebd0b34 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv
@@ -4,5 +4,6 @@ MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMP
MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIMPS:113650 Branchiootorenal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label branchiootorenal syndrome LEXMATCH
MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome LEXMATCH
MONDO:0018878 branchiootic syndrome skos:exactMatch OMIMPS:602588 Branchiootic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchiootic syndrome LEXMATCH
+MONDO:0020728 hypouricemia, renal 1 skos:exactMatch OMIMPS:220150 Hypouricemia, renal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypouricemia, renal LEXMATCH
MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0044278 obsolete short sleeper skos:exactMatch OMIMPS:612975 Short sleep, familial natural semapv:UnspecifiedMatching MONDO_MAPPINGS
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv
index 3a649474..7e60137d 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv
@@ -520,7 +520,6 @@ MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch
MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS
-MONDO:0018782 obsolete type 1 interferonopathy skos:exactMatch Orphanet:477647 Type 1 interferonopathy semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS
MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching MONDO_MAPPINGS
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv
deleted file mode 100644
index b31b65fc..00000000
--- a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv
+++ /dev/null
@@ -1,14 +0,0 @@
-subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment
-MONDO:0012345 acral peeling skin syndrome skos:narrowMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acral peeling skin syndrome LEXMATCH
-MONDO:0012345 acral peeling skin syndrome skos:narrowMatch DOID:0070521 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acral peeling skin syndrome LEXMATCH
-MONDO:0014555 peeling skin syndrome type A skos:narrowMatch DOID:0070522 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peeling skin syndrome type a LEXMATCH
-MONDO:0014555 peeling skin syndrome type A skos:narrowMatch DOID:0070525 peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peeling skin syndrome type a LEXMATCH
-MONDO:0017339 exfoliative ichthyosis skos:narrowMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym autosomal recessive exfoliative ichthyosis LEXMATCH
-MONDO:0017339 exfoliative ichthyosis skos:narrowMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym exfoliative ichthyosis LEXMATCH
-MONDO:0017339 exfoliative ichthyosis skos:narrowMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ichthyosis exfoliativa LEXMATCH
-MONDO:0017339 exfoliative ichthyosis skos:narrowMatch DOID:0070523 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym exfoliative ichthyosis LEXMATCH
-MONDO:0017339 exfoliative ichthyosis skos:narrowMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym autosomal recessive exfoliative ichthyosis LEXMATCH
-MONDO:0017339 exfoliative ichthyosis skos:narrowMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym exfoliative ichthyosis LEXMATCH
-MONDO:0017339 exfoliative ichthyosis skos:narrowMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ichthyosis exfoliativa LEXMATCH
-MONDO:0017339 exfoliative ichthyosis skos:narrowMatch DOID:0070524 peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym exfoliative ichthyosis LEXMATCH
-MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:narrowMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv
index 7072225d..ac013a62 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10cm.tsv
@@ -9,9 +9,11 @@ MONDO:0002204 transient arthritis skos:narrowMatch ICD10CM:M12.8 Other specific
MONDO:0004639 perinatal necrotizing enterocolitis skos:narrowMatch ICD10CM:K55.3 Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label necrotizing enterocolitis LEXMATCH
MONDO:0005393 gout skos:narrowMatch ICD10CM:M1A Chronic gout semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label chronic gout LEXMATCH
MONDO:0005712 congenital nystagmus skos:narrowMatch ICD10CM:H55.0 Nystagmus semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label nystagmus LEXMATCH
+MONDO:0006277 lung lymphangioleiomyomatosis skos:narrowMatch ICD10CM:J84.81 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label lymphangioleiomyomatosis LEXMATCH
MONDO:0006507 hereditary hemochromatosis skos:narrowMatch ICD10CM:E83.11 Hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label hemochromatosis LEXMATCH
MONDO:0007098 ACys amyloidosis skos:narrowMatch ICD10CM:I68.0 Cerebral amyloid angiopathy semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label cerebral amyloid angiopathy LEXMATCH
MONDO:0007157 arthrogryposis, distal, type 1A skos:narrowMatch ICD10CM:Q74.3 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label arthrogryposis multiplex congenita LEXMATCH
+MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:narrowMatch ICD10CM:Q76.1 Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label klippel-feil syndrome LEXMATCH
MONDO:0007540 multiple endocrine neoplasia type 1 skos:narrowMatch ICD10CM:E31.2 Multiple endocrine neoplasia [MEN] syndromes semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym multiple endocrine adenomatosis LEXMATCH
MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:narrowMatch ICD10CM:Q77.7 Spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label spondyloepiphyseal dysplasia LEXMATCH
MONDO:0007896 acute monocytic leukemia skos:narrowMatch ICD10CM:C93 Monocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label monocytic leukemia LEXMATCH
@@ -41,7 +43,6 @@ MONDO:0015459 nasopharyngeal carcinoma skos:narrowMatch ICD10CM:C11.0 Malignant
MONDO:0015459 nasopharyngeal carcinoma skos:narrowMatch ICD10CM:C11.1 Malignant neoplasm of posterior wall of nasopharynx semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label malignant neoplasm of posterior wall of nasopharynx LEXMATCH
MONDO:0015459 nasopharyngeal carcinoma skos:narrowMatch ICD10CM:C11.2 Malignant neoplasm of lateral wall of nasopharynx semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label malignant neoplasm of lateral wall of nasopharynx LEXMATCH
MONDO:0015459 nasopharyngeal carcinoma skos:narrowMatch ICD10CM:C11.3 Malignant neoplasm of anterior wall of nasopharynx semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label malignant neoplasm of anterior wall of nasopharynx LEXMATCH
-MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:narrowMatch ICD10CM:J82.81 Chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label chronic eosinophilic pneumonia LEXMATCH
MONDO:0018100 familial primary hypomagnesemia skos:narrowMatch ICD10CM:E83.42 Hypomagnesemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label hypomagnesemia LEXMATCH
MONDO:0018543 autosomal dominant hypocalcemia skos:narrowMatch ICD10CM:E83.51 Hypocalcemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label hypocalcemia LEXMATCH
MONDO:0018740 drug-induced methemoglobinemia skos:narrowMatch ICD10CM:D74.8 Other methemoglobinemias semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym acquired methemoglobinemia LEXMATCH
diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10who.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10who.tsv
index 36efe6c3..256b1dc9 100644
--- a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10who.tsv
+++ b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_icd10who.tsv
@@ -4,6 +4,7 @@ MONDO:0005519 renal pelvis carcinoma skos:narrowMatch ICD10WHO:C65 Malignant neo
MONDO:0005711 congenital diaphragmatic hernia skos:narrowMatch ICD10WHO:K44 Diaphragmatic hernia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label diaphragmatic hernia LEXMATCH
MONDO:0007098 ACys amyloidosis skos:narrowMatch ICD10WHO:I68.0 Cerebral amyloid angiopathy semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label cerebral amyloid angiopathy LEXMATCH
MONDO:0007157 arthrogryposis, distal, type 1A skos:narrowMatch ICD10WHO:Q74.3 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label arthrogryposis multiplex congenita LEXMATCH
+MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:narrowMatch ICD10WHO:Q76.1 Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label klippel-feil syndrome LEXMATCH
MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:narrowMatch ICD10WHO:Q43.1 Hirschsprung disease semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label hirschsprung disease LEXMATCH
MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:narrowMatch ICD10WHO:Q77.7 Spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label spondyloepiphyseal dysplasia LEXMATCH
MONDO:0007896 acute monocytic leukemia skos:narrowMatch ICD10WHO:C93 Monocytic leukaemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label monocytic leukaemia LEXMATCH
diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv
index 51970694..3356d88e 100644
--- a/src/ontology/lexmatch/unmapped_doid_lex.tsv
+++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv
@@ -1,133 +1,10 @@
subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string
ID A oboInOwl:hasDbXref >A oboInOwl:source
-MONDO:0005111 Epstein-Barr virus infection DOID:2938 MONDO:equivalentTo Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d020031
-MONDO:0006033 diffuse intrinsic pontine glioma DOID:0080684 MONDO:equivalentTo diffuse midline glioma, H3 K27M-mutant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse intrinsic pontine glioma
-MONDO:0006260 kidney medullary carcinoma DOID:0070475 MONDO:equivalentTo SMARCB1-deficient renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kidney medullary carcinoma
-MONDO:0006260 kidney medullary carcinoma DOID:0070475 MONDO:equivalentTo SMARCB1-deficient renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal medullary carcinoma
-MONDO:0006260 kidney medullary carcinoma DOID:0070475 MONDO:equivalentTo SMARCB1-deficient renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kidney medullary carcinoma
-MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions DOID:0081415 MONDO:equivalentTo TFE3-rearranged renal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cell carcinoma associated with xp11.2 translocations/tfe3 gene fusions
-MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions DOID:0081415 MONDO:equivalentTo TFE3-rearranged renal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tfe3-rearranged renal cell carcinoma
-MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions DOID:0081415 MONDO:equivalentTo TFE3-rearranged renal cell carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal cell carcinoma associated with xp11.2 translocations/tfe3 gene fusions
-MONDO:0008078 neurofibromatosis, familial spinal DOID:0070482 MONDO:equivalentTo spinal neurofibromatosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:162210
-MONDO:0009068 cytochrome-c oxidase deficiency disease DOID:0070491 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:220110
-MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome DOID:0080400 MONDO:equivalentTo orofacial cleft 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zlotogora-ogur syndrome
-MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 DOID:0070433 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:239300
-MONDO:0009945 pyridoxine-dependent epilepsy DOID:0070519 MONDO:equivalentTo early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym antiquitin deficiency
-MONDO:0010010 Schinzel-Giedion syndrome DOID:0070509 MONDO:equivalentTo Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536632
-MONDO:0010010 Schinzel-Giedion syndrome DOID:0070509 MONDO:equivalentTo Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:269150
-MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type DOID:0070538 MONDO:equivalentTo syndromic X-linked intellectual developmental disorder bain type semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:300986
-MONDO:0011773 anauxetic dysplasia DOID:0050640 MONDO:equivalentTo anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia, menger type
-MONDO:0011957 retinal macular dystrophy type 2 DOID:0070517 MONDO:equivalentTo retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c562746
-MONDO:0011957 retinal macular dystrophy type 2 DOID:0070517 MONDO:equivalentTo retinal macular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608051
-MONDO:0012118 COG7-congenital disorder of glycosylation DOID:0070257 MONDO:equivalentTo congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608779
-MONDO:0012139 macular dystrophy, retinal, 3 DOID:0070440 MONDO:equivalentTo retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608850
-MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome DOID:0070531 MONDO:equivalentTo foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609218
-MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome DOID:0070442 MONDO:equivalentTo paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609446
-MONDO:0012345 acral peeling skin syndrome DOID:0070521 MONDO:equivalentTo peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536316
-MONDO:0012345 acral peeling skin syndrome DOID:0070521 MONDO:equivalentTo peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609796
-MONDO:0012756 proximal 16p11.2 microdeletion syndrome DOID:0070515 MONDO:equivalentTo chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611913
-MONDO:0013150 parkinsonism-dystonia, infantile DOID:0070487 MONDO:equivalentTo dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome
-MONDO:0013150 parkinsonism-dystonia, infantile DOID:0070489 MONDO:equivalentTo classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567730
-MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 DOID:0070435 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614207
-MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 DOID:0070434 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614749
-MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 DOID:0070462 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615228
-MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 DOID:0070436 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615716
-MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 DOID:0070437 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 4
-MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure DOID:0070396 MONDO:equivalentTo progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615889
-MONDO:0014399 ataxia-telangiectasia-like disorder 2 DOID:0081385 MONDO:equivalentTo ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615919
-MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 DOID:0070432 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616025
-MONDO:0014555 peeling skin syndrome type A DOID:0070522 MONDO:equivalentTo peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616265
-MONDO:0014557 ataxia - oculomotor apraxia type 4 DOID:0081383 MONDO:equivalentTo ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616267
-MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome DOID:0070526 MONDO:equivalentTo PLACK syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616295
-MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome DOID:0070537 MONDO:equivalentTo spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616657
-MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 DOID:0070436 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 6
-MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 DOID:0070437 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616809
-MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 DOID:0060935 MONDO:equivalentTo infantile hypotonia with psychomotor retardation and characteristic facies-3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616900
-MONDO:0014924 epilepsy, familial focal, with variable foci 2 DOID:0081422 MONDO:equivalentTo familial focal epilepsy with variable foci 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617116
-MONDO:0014925 epilepsy, familial focal, with variable foci 3 DOID:0081423 MONDO:equivalentTo familial focal epilepsy with variable foci 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617118
-MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities DOID:0081419 MONDO:equivalentTo childhood-onset dystonia with optic atrophy and basal ganglia abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617282
-MONDO:0016596 hyperphosphatasia-intellectual disability syndrome DOID:0070431 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:239300
-MONDO:0017886 MIT family translocation renal cell carcinoma DOID:0081413 MONDO:equivalentTo renal cell carcinoma with MiT translocations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mit family translocation renal cell carcinoma
-MONDO:0018130 brain dopamine-serotonin vesicular transport disease DOID:0070490 MONDO:equivalentTo infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618049
-MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome DOID:0081386 MONDO:equivalentTo TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616878
-MONDO:0018875 Li-Fraumeni syndrome DOID:0111503 MONDO:equivalentTo Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:151623
-MONDO:0019349 Sotos syndrome DOID:0112103 MONDO:equivalentTo Sotos syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:117550
-MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant DOID:0070519 MONDO:equivalentTo early-onset vitamin B6-dependent epilepsy 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:266100
-MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 DOID:0070465 MONDO:equivalentTo spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618387
-MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 DOID:0070463 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618120
-MONDO:0024556 epilepsy, familial focal, with variable foci 1 DOID:0081421 MONDO:equivalentTo familial focal epilepsy with variable foci 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:604364
-MONDO:0024557 ataxia-telangiectasia-like disorder 1 DOID:0081384 MONDO:equivalentTo ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:604391
-MONDO:0030005 epilepsy, early-onset, with or without developmental delay DOID:0070471 MONDO:equivalentTo early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618832
-MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 DOID:0081427 MONDO:equivalentTo autosomal recessive distal hereditary motor neuronopathy 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618912
-MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) DOID:0070447 MONDO:equivalentTo mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619425
-MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic DOID:0060917 MONDO:equivalentTo facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619477
-MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic DOID:0060918 MONDO:equivalentTo facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619478
-MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) DOID:0070451 MONDO:equivalentTo mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619780
-MONDO:0030860 neuronopathy, distal hereditary motor, type 5C DOID:0081401 MONDO:equivalentTo autosomal dominant distal hereditary motor neuronopathy 13 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619112
-MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia DOID:0081380 MONDO:equivalentTo amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619133
-MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 DOID:0060919 MONDO:equivalentTo proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619175
-MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 DOID:0060915 MONDO:equivalentTo proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619183
-MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 DOID:0081426 MONDO:equivalentTo autosomal recessive distal hereditary motor neuronopathy 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619216
-MONDO:0031019 spastic paraplegia 87, autosomal recessive DOID:0070456 MONDO:equivalentTo hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619966
-MONDO:0031166 macular dystrophy, retinal DOID:0070438 MONDO:equivalentTo retinal macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:136550
-MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair DOID:0070476 MONDO:equivalentTo diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:616901
-MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis DOID:0081398 MONDO:equivalentTo holoprosencephaly 12 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618500
-MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) DOID:0070446 MONDO:equivalentTo mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618528
-MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal DOID:0081396 MONDO:equivalentTo neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618810
-MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant DOID:0070470 MONDO:equivalentTo chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618815
-MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 DOID:0070492 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619046
-MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 DOID:0070493 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619048
-MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 DOID:0070494 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619051
-MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 DOID:0070495 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619052
-MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 DOID:0070496 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619053
-MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 DOID:0070497 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619054
-MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 DOID:0070498 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619055
-MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 DOID:0070499 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619058
-MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 DOID:0070500 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619059
-MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 DOID:0070501 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619060
-MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 DOID:0070502 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619061
-MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 DOID:0070503 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619062
-MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 DOID:0070504 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619063
-MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 DOID:0070505 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619064
-MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 DOID:0070506 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619065
-MONDO:0044212 chronic idiopathic urticaria DOID:0080749 MONDO:equivalentTo chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic urticaria
-MONDO:0044212 chronic idiopathic urticaria DOID:0080749 MONDO:equivalentTo chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria
-MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder DOID:0070474 MONDO:equivalentTo childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617672
-MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 DOID:0060914 MONDO:equivalentTo proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618048
-MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 DOID:0081378 MONDO:equivalentTo amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617892
-MONDO:0054776 epilepsy, familial focal, with variable foci 4 DOID:0081424 MONDO:equivalentTo familial focal epilepsy with variable foci 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617935
-MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 DOID:0081379 MONDO:equivalentTo amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617921
-MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 DOID:0070478 MONDO:equivalentTo diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620062
-MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome DOID:0070487 MONDO:equivalentTo dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome
-MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 DOID:0070477 MONDO:equivalentTo diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616901
-MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 DOID:0070507 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619355
-MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia DOID:0070445 MONDO:equivalentTo early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619681
-MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 DOID:0081425 MONDO:equivalentTo autosomal recessive distal hereditary motor neuronopathy 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620011
-MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 DOID:0081399 MONDO:equivalentTo autosomal dominant distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620080
-MONDO:0859309 spastic paraplegia 88, autosomal dominant DOID:0070457 MONDO:equivalentTo hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620106
-MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia DOID:0070455 MONDO:equivalentTo hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620221
-MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 DOID:0070485 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620275
-MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile DOID:0081381 MONDO:equivalentTo juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620285
-MONDO:0859568 macular dystrophy, retinal, 4 DOID:0070441 MONDO:equivalentTo retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619977
-MONDO:0957203 intellectual developmental disorder, X-linked 111 DOID:0060929 MONDO:equivalentTo non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301107
-MONDO:0957221 spastic paraplegia 70, autosomal recessive DOID:0070454 MONDO:equivalentTo hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620323
-MONDO:0957224 congenital myopathy 21 with early respiratory failure DOID:0081353 MONDO:equivalentTo congenital myopathy 21 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620326
-MONDO:0957247 congenital myopathy 22A, classic DOID:0081354 MONDO:equivalentTo congenital myopathy 22A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620351
-MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A DOID:0070461 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620358
-MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 DOID:0070464 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620359
-MONDO:0957265 congenital myopathy 22B, severe fetal DOID:0081355 MONDO:equivalentTo congenital myopathy 22B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620369
-MONDO:0957274 spastic paraplegia 89, autosomal recessive DOID:0070458 MONDO:equivalentTo hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620379
-MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset DOID:0081374 MONDO:equivalentTo nemaline myopathy 5B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620386
-MONDO:0957284 nemaline myopathy 5C, autosomal dominant DOID:0081375 MONDO:equivalentTo nemaline myopathy 5C semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620389
-MONDO:0957308 spastic paraplegia 90A, autosomal dominant DOID:0070459 MONDO:equivalentTo hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620416
-MONDO:0957309 spastic paraplegia 90B, autosomal recessive DOID:0070460 MONDO:equivalentTo hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620417
-MONDO:0957497 disabling pansclerotic morphea of childhood DOID:0081373 MONDO:equivalentTo disabling pansclerotic morphea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disabling pansclerotic morphea of childhood
-MONDO:0957538 amyotrophic lateral sclerosis 28 DOID:0081382 MONDO:equivalentTo amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620452
-MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures DOID:0070512 MONDO:equivalentTo neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620455
-MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development DOID:0070486 MONDO:equivalentTo Parkinson's disease 25 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620482
-MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 DOID:0081428 MONDO:equivalentTo autosomal recessive distal hereditary motor neuronopathy 9 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620402
-MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 DOID:0081400 MONDO:equivalentTo autosomal dominant distal hereditary motor neuronopathy 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620528
-MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 DOID:0081429 MONDO:equivalentTo autosomal recessive distal hereditary motor neuronopathy 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620542
-MONDO:0958189 basal cell nevus syndrome 2 DOID:0070366 MONDO:equivalentTo nevoid basal cell carcinoma syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620343
-MONDO:0958190 prolonged electroretinal response suppression 2 DOID:0070364 MONDO:equivalentTo bradyopsia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620344
-MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay DOID:0070472 MONDO:equivalentTo early-onset epilepsy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620465
+MONDO:0007495 dystonia 5 DOID:0060963 MONDO:equivalentTo dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:128230
+MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome DOID:0081441 MONDO:equivalentTo Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:601358
+MONDO:0015004 dystonia 28, childhood-onset DOID:0060936 MONDO:equivalentTo dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617284
+MONDO:0030538 dystonia 34, myoclonic DOID:0060957 MONDO:equivalentTo myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619724
+MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities DOID:0081443 MONDO:equivalentTo Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618505
+MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies DOID:0070539 MONDO:equivalentTo Halperin-Birk syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618651
+MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum DOID:0081431 MONDO:equivalentTo microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym donson-related microcephaly-short stature-limb abnormalities spectrum
+MONDO:0957385 dystonia 37, early-onset, with striatal lesions DOID:0060956 MONDO:equivalentTo dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620427
diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv
index b150c6bd..dc8f915b 100644
--- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv
+++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv
@@ -1,88 +1,22 @@
subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string
ID A oboInOwl:hasDbXref >A oboInOwl:source
-MONDO:0000158 developmental dysplasia of the hip DOID:0060930 MONDO:equivalentTo developmental dysplasia of the hip semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:142700
-MONDO:0007628 foveal hypoplasia 1 DOID:0070530 MONDO:equivalentTo foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:136520
-MONDO:0007630 North Carolina macular dystrophy DOID:0070439 MONDO:equivalentTo North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c537835
-MONDO:0007630 North Carolina macular dystrophy DOID:0070439 MONDO:equivalentTo North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:136550
-MONDO:0007729 developmental dysplasia of the hip 1 DOID:0060931 MONDO:equivalentTo developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:142700
-MONDO:0007872 LADD syndrome DOID:0081370 MONDO:equivalentTo LADD syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:149730
-MONDO:0007909 familial multiple lipomatosis DOID:0070518 MONDO:equivalentTo familial multiple lipomatosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d000071070
-MONDO:0007909 familial multiple lipomatosis DOID:0070518 MONDO:equivalentTo familial multiple lipomatosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:151900
-MONDO:0008164 otosclerosis 1 DOID:0060920 MONDO:equivalentTo otosclerosis 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:166800
-MONDO:0008672 Watson syndrome DOID:0070483 MONDO:equivalentTo Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:193520
-MONDO:0009726 proteosome-associated autoinflammatory syndrome DOID:0060913 MONDO:equivalentTo proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:256040
-MONDO:0010209 xanthinuria type I DOID:0070452 MONDO:equivalentTo xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:278300
-MONDO:0010857 semantic dementia DOID:0081391 MONDO:equivalentTo semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia
-MONDO:0011346 xanthinuria type II DOID:0070453 MONDO:equivalentTo xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:603592
-MONDO:0011586 otosclerosis 2 DOID:0060921 MONDO:equivalentTo otosclerosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:605727
-MONDO:0011937 peeling skin syndrome 4 DOID:0070523 MONDO:equivalentTo peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c564309
-MONDO:0011937 peeling skin syndrome 4 DOID:0070523 MONDO:equivalentTo peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:607936
-MONDO:0011999 otosclerosis 3 DOID:0060922 MONDO:equivalentTo otosclerosis 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608244
-MONDO:0012121 otosclerosis 5 DOID:0060924 MONDO:equivalentTo otosclerosis 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608787
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy DOID:0070511 MONDO:equivalentTo polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567020
-MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy DOID:0070511 MONDO:equivalentTo polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611087
-MONDO:0012669 Legius syndrome DOID:0070484 MONDO:equivalentTo Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c548032
-MONDO:0012669 Legius syndrome DOID:0070484 MONDO:equivalentTo Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611431
-MONDO:0012696 otosclerosis 4 DOID:0060923 MONDO:equivalentTo otosclerosis 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611571
-MONDO:0012697 otosclerosis 7 DOID:0060925 MONDO:equivalentTo otosclerosis 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611572
-MONDO:0012797 otosclerosis 8 DOID:0060926 MONDO:equivalentTo otosclerosis 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:612096
-MONDO:0014264 otosclerosis 10 DOID:0060927 MONDO:equivalentTo otosclerosis 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615589
-MONDO:0014277 developmental dysplasia of the hip 2 DOID:0060932 MONDO:equivalentTo developmental dysplasia of the hip 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615612
-MONDO:0014299 schwannomatosis 2 DOID:0070481 MONDO:equivalentTo schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615670
-MONDO:0014923 peeling skin syndrome 5 DOID:0070524 MONDO:equivalentTo peeling skin syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617115
-MONDO:0014946 Sifrim-Hitz-Weiss syndrome DOID:0070529 MONDO:equivalentTo Sifrim-Hitz-Weiss syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617159
-MONDO:0014958 Harel-Yoon syndrome DOID:0081395 MONDO:equivalentTo Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617183
-MONDO:0015059 progressive non-fluent aphasia DOID:0081390 MONDO:equivalentTo progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia
-MONDO:0016644 logopenic progressive aphasia DOID:0081389 MONDO:equivalentTo logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia
-MONDO:0018808 Caroli syndrome DOID:0081394 MONDO:equivalentTo Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome
-MONDO:0019806 primary progressive aphasia DOID:0081388 MONDO:equivalentTo primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia
-MONDO:0020310 familial focal epilepsy with variable foci DOID:0081420 MONDO:equivalentTo familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:604364
-MONDO:0020730 carpal tunnel syndrome 1 DOID:0070466 MONDO:equivalentTo carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:115430
-MONDO:0024507 aniridia 1 DOID:0070532 MONDO:equivalentTo aniridia 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:106210
-MONDO:0024517 schwannomatosis 1 DOID:0070480 MONDO:equivalentTo schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:162091
-MONDO:0024548 peeling skin syndrome 1 DOID:0070520 MONDO:equivalentTo peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:270300
-MONDO:0030020 combined oxidative phosphorylation deficiency 44 DOID:0070424 MONDO:equivalentTo combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618855
-MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures DOID:0081430 MONDO:equivalentTo intellectual developmental disorder with autistic features and language delay, with or without seizures semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618906
-MONDO:0030073 Mitchell syndrome DOID:0070516 MONDO:equivalentTo Mitchell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618960
-MONDO:0030311 combined oxidative phosphorylation deficiency 52 DOID:0070425 MONDO:equivalentTo combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619386
-MONDO:0030378 combined oxidative phosphorylation deficiency 53 DOID:0070426 MONDO:equivalentTo combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619423
-MONDO:0030543 combined oxidative phosphorylation deficiency 54 DOID:0070427 MONDO:equivalentTo combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619737
-MONDO:0030883 carpal tunnel syndrome 2 DOID:0070467 MONDO:equivalentTo carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619161
-MONDO:0032756 long qt syndrome 8 DOID:0110649 MONDO:equivalentTo long QT syndrome 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618447
-MONDO:0032815 mitochondrial DNA depletion syndrome 17 DOID:0070448 MONDO:equivalentTo mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618567
-MONDO:0032915 long QT syndrome 16 DOID:0070533 MONDO:equivalentTo long QT syndrome 16 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618782
-MONDO:0032932 mitochondrial DNA depletion syndrome 18 DOID:0070449 MONDO:equivalentTo mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618811
-MONDO:0033545 mitochondrial DNA depletion syndrome 19 DOID:0070450 MONDO:equivalentTo mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618972
-MONDO:0033618 Vissers-Bodmer syndrome DOID:0081397 MONDO:equivalentTo Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619033
-MONDO:0044315 craniosynostosis 7 DOID:0060912 MONDO:equivalentTo craniosynostosis 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617439
-MONDO:0054560 anauxetic dysplasia 1 DOID:0050640 MONDO:equivalentTo anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:607095
-MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 DOID:0060916 MONDO:equivalentTo proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617591
-MONDO:0054835 classic dopamine transporter deficiency syndrome DOID:0070489 MONDO:equivalentTo classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:613135
-MONDO:0054852 peeling skin syndrome 6 DOID:0070525 MONDO:equivalentTo peeling skin syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618084
-MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies DOID:0070514 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617755
-MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy DOID:0060934 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617862
-MONDO:0700200 atypical dopamine transporter deficiency syndrome DOID:0070488 MONDO:equivalentTo atypical dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dopamine transporter deficiency syndrome
-MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction DOID:0070443 MONDO:equivalentTo neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619333
-MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum DOID:0070469 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619480
-MONDO:0859209 Zaki syndrome DOID:0070473 MONDO:equivalentTo Zaki syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619648
-MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome DOID:0070468 MONDO:equivalentTo Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619701
-MONDO:0859228 combined oxidative phosphorylation deficiency 55 DOID:0070428 MONDO:equivalentTo combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619743
-MONDO:0859256 neurodevelopmental disorder with language delay and seizures DOID:0070444 MONDO:equivalentTo neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619908
-MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures DOID:0070536 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620029
-MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties DOID:0070479 MONDO:equivalentTo neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620070
-MONDO:0859323 combined oxidative phosphorylation deficiency 56 DOID:0070429 MONDO:equivalentTo combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620139
-MONDO:0859337 combined oxidative phosphorylation deficiency 57 DOID:0070430 MONDO:equivalentTo combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620167
-MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses DOID:0070510 MONDO:equivalentTo inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620199
-MONDO:0859577 lacrimoauriculodentodigital syndrome 2 DOID:0081371 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620192
-MONDO:0859578 lacrimoauriculodentodigital syndrome 3 DOID:0081372 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620193
-MONDO:0957215 congenital myopathy 20 DOID:0081352 MONDO:equivalentTo congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620310
-MONDO:0957248 developmental and epileptic encephalopathy 31B DOID:0070376 MONDO:equivalentTo developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620352
-MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities DOID:0081387 MONDO:equivalentTo neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620428
-MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities DOID:0070513 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620489
-MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies DOID:0060933 MONDO:equivalentTo developmental delay, dysmorphic facies, and brain anomalies semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620535
-MONDO:0957870 leukoencephalopathy with vanishing white matter 2 DOID:0070373 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620312
-MONDO:0957871 leukoencephalopathy with vanishing white matter 3 DOID:0070372 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620313
-MONDO:0957872 leukoencephalopathy with vanishing white matter 4 DOID:0070371 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620314
-MONDO:0957873 leukoencephalopathy with vanishing white matter 5 DOID:0070367 MONDO:equivalentTo leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620315
-MONDO:0957928 otosclerosis 11 DOID:0060928 MONDO:equivalentTo otosclerosis 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620576
-MONDO:0958184 epidermolytic hyperkeratosis 2 DOID:0081359 MONDO:equivalentTo epidermolytic hyperkeratosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620150
+MONDO:0009619 microcephaly-micromelia syndrome DOID:0081432 MONDO:equivalentTo microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:251230
+MONDO:0013931 peroxisome biogenesis disorder 4B DOID:0081433 MONDO:equivalentTo Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614863
+MONDO:0013933 peroxisome biogenesis disorder 5B DOID:0081434 MONDO:equivalentTo Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614867
+MONDO:0013937 peroxisome biogenesis disorder 6B DOID:0081435 MONDO:equivalentTo Peroxisome biogenesis disorder 6B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614871
+MONDO:0013939 peroxisome biogenesis disorder 7B DOID:0081436 MONDO:equivalentTo Peroxisome biogenesis disorder 7B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614873
+MONDO:0013943 peroxisome biogenesis disorder 8B DOID:0081437 MONDO:equivalentTo Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614877
+MONDO:0013945 peroxisome biogenesis disorder 9B DOID:0081438 MONDO:equivalentTo Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614879
+MONDO:0013950 peroxisome biogenesis disorder 11B DOID:0081439 MONDO:equivalentTo Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614885
+MONDO:0025691 dystonia 30 DOID:0060937 MONDO:equivalentTo dystonia 30 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619291
+MONDO:0030455 dystonia 31 DOID:0060938 MONDO:equivalentTo dystonia 31 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619565
+MONDO:0030486 dystonia 32 DOID:0060939 MONDO:equivalentTo dystonia 32 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619637
+MONDO:0030513 dystonia 33 DOID:0060940 MONDO:equivalentTo dystonia 33 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619687
+MONDO:0030958 dystonia 35, childhood-onset DOID:0060955 MONDO:equivalentTo dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619921
+MONDO:0054549 peroxisome biogenesis disorder 10B DOID:0081440 MONDO:equivalentTo Peroxisome biogenesis disorder 10B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617370
+MONDO:0060533 microcephaly, short stature, and limb abnormalities DOID:0081431 MONDO:equivalentTo microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617604
+MONDO:0859139 blepharophimosis-impaired intellectual development syndrome DOID:0081442 MONDO:equivalentTo blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619293
+MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities DOID:0081444 MONDO:equivalentTo neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620242
+MONDO:0859380 episodic kinesigenic dyskinesia 3 DOID:0060944 MONDO:equivalentTo episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620245
+MONDO:0957539 dystonia 22, juvenile-onset DOID:0060966 MONDO:equivalentTo dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620453
+MONDO:0957542 dystonia 22, adult-onset DOID:0060967 MONDO:equivalentTo dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620456
diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv
index 28804a7a..5641ba83 100644
--- a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv
+++ b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv
@@ -299,6 +299,7 @@ MONDO:0002440 erythropoietin polycythemia ICD10CM:D75.1 MONDO:equivalentTo Secon
MONDO:0002443 bruxism ICD10CM:F45.8 MONDO:equivalentTo Other somatoform disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym teeth grinding
MONDO:0002443 bruxism ICD10CM:G47.63 MONDO:equivalentTo Sleep related bruxism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep related bruxism
MONDO:0002457 Treacher-Collins syndrome ICD10CM:Q75.4 MONDO:equivalentTo Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym franceschetti syndrome
+MONDO:0002457 Treacher-Collins syndrome ICD10CM:Q75.4 MONDO:equivalentTo Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym treacher collins syndrome
MONDO:0002462 glomerulonephritis ICD10CM:N08 MONDO:equivalentTo Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glomerulonephritis
MONDO:0002462 glomerulonephritis ICD10CM:N08 MONDO:equivalentTo Glomerular disorders in diseases classified elsewhere semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomerulonephritis
MONDO:0002465 bronchiolitis ICD10CM:J21.9 MONDO:equivalentTo Acute bronchiolitis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bronchiolitis
@@ -764,6 +765,7 @@ MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Mel
MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melkersson's syndrome
MONDO:0007969 Melkersson-Rosenthal syndrome ICD10CM:G51.2 MONDO:equivalentTo Melkersson's syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melkersson-rosenthal syndrome
MONDO:0007972 Meniere disease ICD10CM:H81.39 MONDO:equivalentTo Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otogenic vertigo
+MONDO:0008006 Mobius syndrome ICD10CM:Q87.0 MONDO:equivalentTo Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym moebius syndrome
MONDO:0008007 tooth ankylosis ICD10CM:K03.5 MONDO:equivalentTo Ankylosis of teeth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankylosis of teeth
MONDO:0008009 monilethrix ICD10CM:Q84.1 MONDO:equivalentTo Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monilethrix
MONDO:0008009 monilethrix ICD10CM:Q84.1 MONDO:equivalentTo Congenital morphological disturbances of hair, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monilethrix
@@ -771,6 +773,7 @@ MONDO:0008039 tropical spastic paraparesis ICD10CM:G04.1 MONDO:equivalentTo Trop
MONDO:0008048 autosomal dominant centronuclear myopathy ICD10CM:G71.228 MONDO:equivalentTo Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant centronuclear myopathy
MONDO:0008048 autosomal dominant centronuclear myopathy ICD10CM:G71.228 MONDO:equivalentTo Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant centronuclear myopathy
MONDO:0008056 myotonic dystrophy type 1 ICD10CM:G71.11 MONDO:equivalentTo Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystrophia myotonica
+MONDO:0008056 myotonic dystrophy type 1 ICD10CM:G71.11 MONDO:equivalentTo Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myotonic dystrophy
MONDO:0008056 myotonic dystrophy type 1 ICD10CM:G71.11 MONDO:equivalentTo Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steinert disease
MONDO:0008061 nail-patella syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nail patella syndrome
MONDO:0008090 cyclic hematopoiesis ICD10CM:D70.4 MONDO:equivalentTo Cyclic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cyclic hematopoiesis
@@ -779,6 +782,8 @@ MONDO:0008090 cyclic hematopoiesis ICD10CM:D70.4 MONDO:equivalentTo Cyclic neutr
MONDO:0008114 obsessive-compulsive disorder ICD10CM:F42.8 MONDO:equivalentTo Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anancastic neurosis
MONDO:0008116 oculopharyngeal muscular dystrophy ICD10CM:G71.09 MONDO:equivalentTo Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopharyngeal muscular dystrophy
MONDO:0008116 oculopharyngeal muscular dystrophy ICD10CM:G71.09 MONDO:equivalentTo Other specified muscular dystrophies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculopharyngeal muscular dystrophy
+MONDO:0008136 isolated optic nerve hypoplasia ICD10CM:H47.03 MONDO:equivalentTo Optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic nerve hypoplasia
+MONDO:0008136 isolated optic nerve hypoplasia ICD10CM:H47.033 MONDO:equivalentTo Optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic nerve hypoplasia, bilateral
MONDO:0008145 Ollier disease ICD10CM:Q78.4 MONDO:equivalentTo Enchondromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ollier's disease
MONDO:0008170 ovarian cancer ICD10CM:C56 MONDO:equivalentTo Malignant neoplasm of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of ovary
MONDO:0008171 nephrolithiasis ICD10CM:N20 MONDO:equivalentTo Calculus of kidney and ureter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label calculus of kidney and ureter
@@ -883,6 +888,7 @@ MONDO:0009254 fucosidosis ICD10CM:E77.1 MONDO:equivalentTo Defects in glycoprote
MONDO:0009255 galactokinase deficiency ICD10CM:E74.29 MONDO:equivalentTo Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galactokinase deficiency
MONDO:0009255 galactokinase deficiency ICD10CM:E74.29 MONDO:equivalentTo Other disorders of galactose metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym galactokinase deficiency
MONDO:0009275 neonatal hemochromatosis ICD10CM:P78.84 MONDO:equivalentTo Gestational alloimmune liver disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal hemochromatosis
+MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency ICD10CM:E71.313 MONDO:equivalentTo Glutaric aciduria type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutaric aciduria type ii
MONDO:0009290 glycogen storage disease II ICD10CM:E74.02 MONDO:equivalentTo Pompe disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pompe disease
MONDO:0009291 glycogen storage disease III ICD10CM:E74.03 MONDO:equivalentTo Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forbes disease
MONDO:0009291 glycogen storage disease III ICD10CM:E74.03 MONDO:equivalentTo Cori disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cori disease
@@ -910,6 +916,7 @@ MONDO:0009528 chylomicron retention disease ICD10CM:E78.3 MONDO:equivalentTo Hyp
MONDO:0009528 chylomicron retention disease ICD10CM:E78.3 MONDO:equivalentTo Hyperchylomicronemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chylomicron retention disease
MONDO:0009532 Miller-Dieker lissencephaly syndrome ICD10CM:Q93.88 MONDO:equivalentTo Other microdeletions semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym miller-dieker syndrome
MONDO:0009650 mucolipidosis type II ICD10CM:E77.0 MONDO:equivalentTo Defects in post-translational modification of lysosomal enzymes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucolipidosis ii
+MONDO:0009653 mucolipidosis type IV ICD10CM:E75.11 MONDO:equivalentTo Mucolipidosis IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucolipidosis iv
MONDO:0009659 mucopolysaccharidosis type 4A ICD10CM:E76.210 MONDO:equivalentTo Morquio A mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome a
MONDO:0009660 mucopolysaccharidosis type 4B ICD10CM:E76.211 MONDO:equivalentTo Morquio B mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morquio syndrome b
MONDO:0009662 mucopolysaccharidosis type 7 ICD10CM:E76.29 MONDO:equivalentTo Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-glucuronidase deficiency
@@ -930,6 +937,8 @@ MONDO:0009831 malignant pancreatic neoplasm ICD10CM:C25.2 MONDO:equivalentTo Mal
MONDO:0009846 pentosuria ICD10CM:E74.89 MONDO:equivalentTo Other specified disorders of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym essential pentosuria
MONDO:0009852 hereditary intrinsic factor deficiency ICD10CM:D51.0 MONDO:equivalentTo Vitamin B12 deficiency anemia due to intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital intrinsic factor deficiency
MONDO:0009887 desquamative interstitial pneumonia ICD10CM:J84.115 MONDO:equivalentTo Respiratory bronchiolitis interstitial lung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label respiratory bronchiolitis interstitial lung disease
+MONDO:0009902 cutaneous porphyria ICD10CM:E80.0 MONDO:equivalentTo Hereditary erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital erythropoietic porphyria
+MONDO:0009948 pyropoikilocytosis, hereditary ICD10CM:E83.39 MONDO:equivalentTo Other disorders of phosphorus metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypophosphatasia
MONDO:0010002 Rothmund-Thomson syndrome ICD10CM:Q82.8 MONDO:equivalentTo Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital poikiloderma
MONDO:0010008 sarcosinemia ICD10CM:E72.59 MONDO:equivalentTo Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcosinemia
MONDO:0010008 sarcosinemia ICD10CM:E72.59 MONDO:equivalentTo Other disorders of glycine metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcosinemia
@@ -941,6 +950,7 @@ MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MOND
MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency
MONDO:0010083 succinic semialdehyde dehydrogenase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym succinic semialdehyde dehydrogenase deficiency
MONDO:0010085 Schilder disease ICD10CM:G37.0 MONDO:equivalentTo Diffuse sclerosis of central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schilder's disease
+MONDO:0010088 mucosulfatidosis ICD10CM:E75.26 MONDO:equivalentTo Sulfatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple sulfatase deficiency
MONDO:0010089 isolated sulfite oxidase deficiency ICD10CM:E72.19 MONDO:equivalentTo Other disorders of sulfur-bearing amino-acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sulfite oxidase deficiency
MONDO:0010096 tardive dyskinesia ICD10CM:G24.01 MONDO:equivalentTo Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tardive dyskinesia
MONDO:0010096 tardive dyskinesia ICD10CM:G24.01 MONDO:equivalentTo Drug induced subacute dyskinesia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tardive dyskinesia
@@ -973,6 +983,7 @@ MONDO:0011266 myotonic dystrophy type 2 ICD10CM:G71.11 MONDO:equivalentTo Myoton
MONDO:0011382 sickle cell anemia ICD10CM:D57.1 MONDO:equivalentTo Sickle-cell disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-ss disease without crisis
MONDO:0011382 sickle cell anemia ICD10CM:D57.2 MONDO:equivalentTo Sickle-cell/Hb-C disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-s/hb-c disease
MONDO:0011382 sickle cell anemia ICD10CM:D57.20 MONDO:equivalentTo Sickle-cell/Hb-C disease without crisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sickle-cell/hb-c disease without crisis
+MONDO:0011405 poikiloderma with neutropenia ICD10CM:L28.1 MONDO:equivalentTo Prurigo nodularis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prurigo nodularis
MONDO:0011438 acne ICD10CM:L70.0 MONDO:equivalentTo Acne vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne vulgaris
MONDO:0011438 acne ICD10CM:L70.2 MONDO:equivalentTo Acne varioliformis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne varioliformis
MONDO:0011441 complex regional pain syndrome type 1 ICD10CM:G90.5 MONDO:equivalentTo Complex regional pain syndrome I (CRPS I) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex regional pain syndrome i
@@ -1068,6 +1079,7 @@ MONDO:0016025 myoclonic-astatic epilepsy ICD10CM:G40.4 MONDO:equivalentTo Other
MONDO:0016033 Cornelia de Lange syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym de lange syndrome
MONDO:0016035 Nelson syndrome ICD10CM:E24.1 MONDO:equivalentTo Nelson's syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nelson's syndrome
MONDO:0016052 atypical autism ICD10CM:F84.9 MONDO:equivalentTo Pervasive developmental disorder, unspecified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical autism
+MONDO:0016057 isolated encephalocele ICD10CM:Q01 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalocele
MONDO:0016066 sternal cleft ICD10CM:Q76.7 MONDO:equivalentTo Congenital malformation of sternum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sternum bifidum
MONDO:0016079 sporadic Creutzfeldt-Jakob disease ICD10CM:A81.09 MONDO:equivalentTo Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sporadic creutzfeldt-jakob disease
MONDO:0016107 myotonic dystrophy ICD10CM:G71.11 MONDO:equivalentTo Myotonic muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonic dystrophy
@@ -1111,6 +1123,8 @@ MONDO:0017169 multiple endocrine neoplasia ICD10CM:E31.2 MONDO:equivalentTo Mult
MONDO:0017194 Blount disease ICD10CM:M92.51 MONDO:equivalentTo Juvenile osteochondrosis of proximal tibia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blount disease
MONDO:0017194 Blount disease ICD10CM:M92.51 MONDO:equivalentTo Juvenile osteochondrosis of proximal tibia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blount disease
MONDO:0017236 rapidly progressive glomerulonephritis ICD10CM:N01 MONDO:equivalentTo Rapidly progressive nephritic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rapidly progressive glomerulonephritis
+MONDO:0017278 autoimmune polyendocrinopathy ICD10CM:D68.61 MONDO:equivalentTo Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antiphospholipid syndrome
+MONDO:0017363 idiopathic chronic eosinophilic pneumonia ICD10CM:J82.81 MONDO:equivalentTo Chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic eosinophilic pneumonia
MONDO:0017373 poliomyelitis ICD10CM:A80 MONDO:equivalentTo Acute poliomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute poliomyelitis
MONDO:0017376 reactive arthritis ICD10CM:M02.1 MONDO:equivalentTo Postdysenteric arthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postdysenteric arthropathy
MONDO:0017376 reactive arthritis ICD10CM:M02.3 MONDO:equivalentTo Reiter's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reactive arthritis
@@ -1241,6 +1255,7 @@ MONDO:0019087 cholangiocarcinoma ICD10CM:C22.1 MONDO:equivalentTo Intrahepatic b
MONDO:0019087 cholangiocarcinoma ICD10CM:C22.1 MONDO:equivalentTo Intrahepatic bile duct carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholangiocarcinoma
MONDO:0019088 post-transplant lymphoproliferative disease ICD10CM:D47.Z1 MONDO:equivalentTo Post-transplant lymphoproliferative disorder (PTLD) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym post-transplant lymphoproliferative disorder
MONDO:0019100 neuromyelitis optica ICD10CM:G36.0 MONDO:equivalentTo Neuromyelitis optica [Devic] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neuromyelitis optica
+MONDO:0019122 idiopathic acute eosinophilic pneumonia ICD10CM:J82.82 MONDO:equivalentTo Acute eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute eosinophilic pneumonia
MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency ICD10CM:D68.59 MONDO:equivalentTo Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protein c deficiency
MONDO:0019147 myiasis ICD10CM:B87.9 MONDO:equivalentTo Myiasis, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myiasis, unspecified
MONDO:0019148 Wolman disease ICD10CM:E75.5 MONDO:equivalentTo Other lipid storage disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolman's disease
@@ -1250,6 +1265,7 @@ MONDO:0019165 central precocious puberty ICD10CM:E22.8 MONDO:equivalentTo Other
MONDO:0019167 immunoglobulin A vasculitis ICD10CM:D69.0 MONDO:equivalentTo Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purpura rheumatica
MONDO:0019167 immunoglobulin A vasculitis ICD10CM:D69.0 MONDO:equivalentTo Allergic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic purpura
MONDO:0019168 pyomyositis ICD10CM:M60.0 MONDO:equivalentTo Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tropical pyomyositis
+MONDO:0019171 familial long QT syndrome ICD10CM:I45.81 MONDO:equivalentTo Long QT syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label long qt syndrome
MONDO:0019172 aniridia ICD10CM:Q13.1 MONDO:equivalentTo Absence of iris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aniridia
MONDO:0019187 Axenfeld-Rieger syndrome ICD10CM:Q13.81 MONDO:equivalentTo Rieger's anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rieger's anomaly
MONDO:0019188 Rubinstein-Taybi syndrome ICD10CM:Q87.2 MONDO:equivalentTo Congenital malformation syndromes predominantly involving limbs semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rubinstein-taybi syndrome
@@ -1265,6 +1281,7 @@ MONDO:0019260 adult neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalen
MONDO:0019262 juvenile neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym batten disease
MONDO:0019262 juvenile neuronal ceroid lipofuscinosis ICD10CM:E75.4 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spielmeyer-vogt disease
MONDO:0019287 ectodermal dysplasia syndrome ICD10CM:Q82.4 MONDO:equivalentTo Ectodermal dysplasia (anhidrotic) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectodermal dysplasia
+MONDO:0019312 Hermansky-Pudlak syndrome ICD10CM:K76.81 MONDO:equivalentTo Hepatopulmonary syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hepatopulmonary syndrome
MONDO:0019314 cutaneous mastocytoma ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solitary mastocytoma
MONDO:0019315 diffuse cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse cutaneous mastocytosis
MONDO:0019315 diffuse cutaneous mastocytosis ICD10CM:D47.01 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse cutaneous mastocytosis
@@ -1308,6 +1325,7 @@ MONDO:0019498 tungiasis ICD10CM:B88.1 MONDO:equivalentTo Tungiasis [sandflea inf
MONDO:0019499 Turner syndrome ICD10CM:Q96.0 MONDO:equivalentTo Karyotype 45, X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label karyotype 45, x
MONDO:0019507 amelogenesis imperfecta ICD10CM:K00.5 MONDO:equivalentTo Hereditary disturbances in tooth structure, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta
MONDO:0019509 cutaneous leukocytoclastic angiitis ICD10CM:M31.0 MONDO:equivalentTo Hypersensitivity angiitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypersensitivity angiitis
+MONDO:0019532 autoimmune hemolytic anemia, warm type ICD10CM:D59.11 MONDO:equivalentTo Warm autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label warm autoimmune hemolytic anemia
MONDO:0019533 paroxysmal cold hemoglobinuria ICD10CM:D59.6 MONDO:equivalentTo Hemoglobinuria due to hemolysis from other external causes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym paroxysmal cold hemoglobinuria
MONDO:0019537 hemoglobin D disease ICD10CM:D58.2 MONDO:equivalentTo Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hb-d disease
MONDO:0019547 Wells syndrome ICD10CM:L98.3 MONDO:equivalentTo Eosinophilic cellulitis [Wells] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eosinophilic cellulitis
@@ -1344,8 +1362,10 @@ MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagr
MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pellagra
MONDO:0019975 pellagra ICD10CM:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pellagra
MONDO:0019978 Robinow syndrome ICD10CM:Q87.19 MONDO:equivalentTo Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow-silverman-smith syndrome
+MONDO:0020007 absence of the pulmonary artery ICD10CM:Q25.79 MONDO:equivalentTo Other congenital malformations of pulmonary artery semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agenesis of pulmonary artery
MONDO:0020076 myeloproliferative neoplasm ICD10CM:D47.1 MONDO:equivalentTo Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic myeloproliferative disease
MONDO:0020110 pulmonary agenesis ICD10CM:Q33.3 MONDO:equivalentTo Agenesis of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of lung
+MONDO:0020290 familial atrioventricular septal defect ICD10CM:Q21.2 MONDO:equivalentTo Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular septal defect
MONDO:0020320 acute myeloblastic leukemia with maturation ICD10CM:C92.0 MONDO:equivalentTo Acute myeloblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloblastic leukemia m2
MONDO:0020323 primary mediastinal large B-cell lymphoma ICD10CM:C85.2 MONDO:equivalentTo Mediastinal (thymic) large B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mediastinal (thymic) large b-cell lymphoma
MONDO:0020324 intravascular large B-cell lymphoma ICD10CM:C83.8 MONDO:equivalentTo Other non-follicular lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intravascular large b-cell lymphoma
@@ -1426,6 +1446,7 @@ MONDO:0022428 aluminosis ICD10CM:J63.0 MONDO:equivalentTo Aluminosis (of lung) s
MONDO:0022430 persistent fetal circulation syndrome ICD10CM:P29.3 MONDO:equivalentTo Persistent fetal circulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label persistent fetal circulation
MONDO:0022792 coccygodynia ICD10CM:M53.3 MONDO:equivalentTo Sacrococcygeal disorders, not elsewhere classified semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coccygodynia
MONDO:0022968 dextrocardia with situs inversus ICD10CM:Q89.3 MONDO:equivalentTo Situs inversus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dextrocardia with situs inversus
+MONDO:0023149 infection due to clostridium perfringens ICD10CM:A48.0 MONDO:equivalentTo Gas gangrene semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clostridial myonecrosis
MONDO:0023153 tuberculous ascites ICD10CM:A18.31 MONDO:equivalentTo Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberculous ascites
MONDO:0023153 tuberculous ascites ICD10CM:A18.31 MONDO:equivalentTo Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberculous ascites
MONDO:0023164 viral pericarditis ICD10CM:I30.1 MONDO:equivalentTo Infective pericarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym viral pericarditis
@@ -1476,7 +1497,6 @@ MONDO:0042233 disseminated candidiasis ICD10CM:B37.7 MONDO:equivalentTo Candidal
MONDO:0042233 disseminated candidiasis ICD10CM:B37.7 MONDO:equivalentTo Candidal sepsis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disseminated candidiasis
MONDO:0043004 Weil's disease ICD10CM:A27.0 MONDO:equivalentTo Leptospirosis icterohemorrhagica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weil's disease
MONDO:0043004 Weil's disease ICD10CM:A27.0 MONDO:equivalentTo Leptospirosis icterohemorrhagica semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym weil's disease
-MONDO:0043187 pulmonary artery agenesis ICD10CM:Q25.79 MONDO:equivalentTo Other congenital malformations of pulmonary artery semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agenesis of pulmonary artery
MONDO:0043219 migraine with brainstem aura ICD10CM:G43.1 MONDO:equivalentTo Migraine with aura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basilar migraine
MONDO:0043247 Mallory-Weiss syndrome ICD10CM:K22.6 MONDO:equivalentTo Gastro-esophageal laceration-hemorrhage syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mallory-weiss syndrome
MONDO:0043247 Mallory-Weiss syndrome ICD10CM:K22.6 MONDO:equivalentTo Gastro-esophageal laceration-hemorrhage syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mallory-weiss syndrome
@@ -1531,3 +1551,4 @@ MONDO:0850230 chronic urticaria ICD10CM:L50.8 MONDO:equivalentTo Other urticaria
MONDO:0858950 traumatic brain injury ICD10CM:S06 MONDO:equivalentTo Intracranial injury semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym traumatic brain injury
MONDO:0859006 proximal femoral focal deficiency ICD10CM:Q72.4 MONDO:equivalentTo Longitudinal reduction defect of femur semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym proximal femoral focal deficiency
MONDO:0859598 erythroleukemia ICD10CM:C94.0 MONDO:equivalentTo Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythroleukemia
+MONDO:0956962 benign teratoma ICD10CM:D28 MONDO:equivalentTo Benign neoplasm of other and unspecified female genital organs semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym benign teratoma
diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv
index abfb6b25..8be72b8c 100644
--- a/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv
+++ b/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv
@@ -401,4 +401,5 @@ MONDO:0800198 alopecia universalis ICD10CM:L63.1 MONDO:equivalentTo Alopecia uni
MONDO:0850231 erythema nodosum ICD10CM:L52 MONDO:equivalentTo Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum
MONDO:0850301 pemphigoid ICD10CM:L12 MONDO:equivalentTo Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid
MONDO:0859565 atrioventricular septal defect ICD10CM:Q21.2 MONDO:equivalentTo Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect
+MONDO:0956980 vascular parkinsonism ICD10CM:G21.4 MONDO:equivalentTo Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism
MONDO:0958083 conjoined twins ICD10CM:Q89.4 MONDO:equivalentTo Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins
diff --git a/src/ontology/lexmatch/unmapped_icd10who_lex.tsv b/src/ontology/lexmatch/unmapped_icd10who_lex.tsv
index b40065ea..e492d5f0 100644
--- a/src/ontology/lexmatch/unmapped_icd10who_lex.tsv
+++ b/src/ontology/lexmatch/unmapped_icd10who_lex.tsv
@@ -337,6 +337,7 @@ MONDO:0010674 mucopolysaccharidosis type 2 ICD10WHO:E76.1 MONDO:equivalentTo Muc
MONDO:0010888 adenomyosis ICD10WHO:N80.0 MONDO:equivalentTo Endometriosis of uterus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endometriosis of uterus
MONDO:0011122 obesity disorder ICD10WHO:E66 MONDO:equivalentTo Obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obesity
MONDO:0011399 alpha thalassemia ICD10WHO:D56.0 MONDO:equivalentTo Alpha thalassaemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpha thalassaemia
+MONDO:0011405 poikiloderma with neutropenia ICD10WHO:L28.1 MONDO:equivalentTo Prurigo nodularis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prurigo nodularis
MONDO:0011429 juvenile idiopathic arthritis ICD10WHO:M08.0 MONDO:equivalentTo Juvenile rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile rheumatoid arthritis
MONDO:0011438 acne ICD10WHO:L70.0 MONDO:equivalentTo Acne vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne vulgaris
MONDO:0011438 acne ICD10WHO:L70.2 MONDO:equivalentTo Acne varioliformis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne varioliformis
@@ -358,7 +359,9 @@ MONDO:0015299 Asherman syndrome ICD10WHO:N85.6 MONDO:equivalentTo Intrauterine s
MONDO:0015347 multicentric reticulohistiocytosis ICD10WHO:M14.3 MONDO:equivalentTo Lipoid dermatoarthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lipoid dermatoarthritis
MONDO:0015450 triatrial heart ICD10WHO:Q24.2 MONDO:equivalentTo Cor triatriatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cor triatriatum
MONDO:0015814 primary cutaneous follicle center lymphoma ICD10WHO:C82.6 MONDO:equivalentTo Cutaneous follicle centre lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cutaneous follicle centre lymphoma
+MONDO:0015986 bilateral renal agenesis ICD10WHO:Q60.1 MONDO:equivalentTo Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal agenesis, bilateral
MONDO:0016011 fetal alcohol syndrome ICD10WHO:Q86.0 MONDO:equivalentTo Fetal alcohol syndrome (dysmorphic) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal alcohol syndrome
+MONDO:0016057 isolated encephalocele ICD10WHO:Q01 MONDO:equivalentTo Encephalocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalocele
MONDO:0016218 Guillain-Barre syndrome ICD10WHO:G61.0 MONDO:equivalentTo Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label guillain-barré syndrome
MONDO:0016367 dermatomyositis ICD10WHO:M33 MONDO:equivalentTo Dermatopolymyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermatopolymyositis
MONDO:0016418 multiple system atrophy, cerebellar type ICD10WHO:G23.3 MONDO:equivalentTo Multiple system atrophy, cerebellar type [MSA-C] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple system atrophy, cerebellar type
@@ -427,6 +430,7 @@ MONDO:0019932 isolated partial vaginal agenesis ICD10WHO:Q52.0 MONDO:equivalentT
MONDO:0019975 pellagra ICD10WHO:E52 MONDO:equivalentTo Niacin deficiency [pellagra] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niacin deficiency
MONDO:0020076 myeloproliferative neoplasm ICD10WHO:D47.1 MONDO:equivalentTo Chronic myeloproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic myeloproliferative disease
MONDO:0020128 motor neuron disorder ICD10WHO:G12.2 MONDO:equivalentTo Motor neuron disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label motor neuron disease
+MONDO:0020290 familial atrioventricular septal defect ICD10WHO:Q21.2 MONDO:equivalentTo Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular septal defect
MONDO:0020323 primary mediastinal large B-cell lymphoma ICD10WHO:C85.2 MONDO:equivalentTo Mediastinal (thymic) large B-cell lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mediastinal (thymic) large b-cell lymphoma
MONDO:0020334 mast cell leukemia ICD10WHO:C94.3 MONDO:equivalentTo Mast cell leukaemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mast cell leukaemia
MONDO:0020352 multiple system atrophy, parkinsonian type ICD10WHO:G23.2 MONDO:equivalentTo Multiple system atrophy, parkinsonian type [MSA-P] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple system atrophy, parkinsonian type
@@ -453,6 +457,7 @@ MONDO:0022697 athetoid cerebral palsy ICD10WHO:G80.3 MONDO:equivalentTo Dyskinet
MONDO:0023483 infectious myositis ICD10WHO:M60.0 MONDO:equivalentTo Infective myositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infective myositis
MONDO:0024361 circadian rhythm sleep disorder ICD10WHO:G47.2 MONDO:equivalentTo Disorders of the sleep-wake schedule semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorders of the sleep-wake schedule
MONDO:0024376 sleep disorder, initiating and maintaining sleep ICD10WHO:G47.0 MONDO:equivalentTo Disorders of initiating and maintaining sleep [insomnias] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorders of initiating and maintaining sleep
+MONDO:0024574 von Willebrand disease (hereditary or acquired) ICD10WHO:D68.0 MONDO:equivalentTo Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disease
MONDO:0024633 hypertensive nephropathy ICD10WHO:I12 MONDO:equivalentTo Hypertensive renal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertensive renal disease
MONDO:0025514 livedoid vasculopathy ICD10WHO:L95.0 MONDO:equivalentTo Livedoid vasculitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label livedoid vasculitis
MONDO:0025598 pneumonia caused by chlamydia ICD10WHO:J16.0 MONDO:equivalentTo Chlamydial pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chlamydial pneumonia
diff --git a/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv
index 409533d5..8142b3e5 100644
--- a/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv
+++ b/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv
@@ -741,4 +741,5 @@ MONDO:0850046 amniotic fluid embolism ICD10WHO:O88.1 MONDO:equivalentTo Amniotic
MONDO:0850231 erythema nodosum ICD10WHO:L52 MONDO:equivalentTo Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum
MONDO:0850301 pemphigoid ICD10WHO:L12 MONDO:equivalentTo Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid
MONDO:0859565 atrioventricular septal defect ICD10WHO:Q21.2 MONDO:equivalentTo Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect
+MONDO:0956980 vascular parkinsonism ICD10WHO:G21.4 MONDO:equivalentTo Vascular parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular parkinsonism
MONDO:0958083 conjoined twins ICD10WHO:Q89.4 MONDO:equivalentTo Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins
diff --git a/src/ontology/lexmatch/unmapped_ncit_lex.tsv b/src/ontology/lexmatch/unmapped_ncit_lex.tsv
index 2e92cdfc..02dc78cc 100644
--- a/src/ontology/lexmatch/unmapped_ncit_lex.tsv
+++ b/src/ontology/lexmatch/unmapped_ncit_lex.tsv
@@ -25,10 +25,12 @@ MONDO:0006329 olfactory neuroblastoma NCIT:C6016 MONDO:equivalentTo Paranasal Si
MONDO:0006363 peritoneal multicystic mesothelioma NCIT:C3765 MONDO:equivalentTo Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma
MONDO:0006451 thymic carcinoma NCIT:C7612 MONDO:equivalentTo Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant thymoma
MONDO:0006717 cutaneous fibrous histiocytoma NCIT:C8402 MONDO:equivalentTo Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm
+MONDO:0009933 congenital pulmonary lymphangiectasia NCIT:C45630 MONDO:equivalentTo Diffuse Pulmonary Lymphangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse pulmonary lymphangiomatosis
MONDO:0015686 primary peritoneal carcinoma NCIT:C4182 MONDO:equivalentTo Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous surface papillary carcinoma
MONDO:0016715 ependymoblastoma NCIT:C186534 MONDO:equivalentTo Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes
MONDO:0016824 infantile myofibromatosis NCIT:C27498 MONDO:equivalentTo Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma
MONDO:0017884 papillary renal cell carcinoma NCIT:C27890 MONDO:equivalentTo Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma
+MONDO:0018017 goblet cell carcinoma NCIT:C201135 MONDO:equivalentTo Goblet Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label goblet cell adenocarcinoma
MONDO:0018369 immature ovarian teratoma NCIT:C39995 MONDO:equivalentTo Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma
MONDO:0018473 hyperlipoproteinemia type 3 NCIT:C34710 MONDO:equivalentTo Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia
MONDO:0018881 myelodysplastic syndrome NCIT:C8648 MONDO:equivalentTo Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome, unclassifiable
diff --git a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv
index a73a1fc8..5fc9a7f7 100644
--- a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv
+++ b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv
@@ -42,4 +42,17 @@ MONDO:0859598 erythroleukemia NCIT:C7152 MONDO:equivalentTo Erythroleukemia sema
MONDO:0859747 grade I lymphomatoid granulomatosis NCIT:C7931 MONDO:equivalentTo Grade I Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade i lymphomatoid granulomatosis
MONDO:0859748 grade II lymphomatoid granulomatosis NCIT:C7932 MONDO:equivalentTo Grade II Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade ii lymphomatoid granulomatosis
MONDO:0859749 grade III lymphomatoid granulomatosis NCIT:C7933 MONDO:equivalentTo Grade III Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade iii lymphomatoid granulomatosis
+MONDO:0956962 benign teratoma NCIT:C67107 MONDO:equivalentTo Benign Teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign teratoma
+MONDO:0956981 astrocytoma, IDH-mutant, grade 4 NCIT:C167335 MONDO:equivalentTo Astrocytoma, IDH-Mutant, Grade 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade 4
+MONDO:0956989 CIC-rearranged sarcoma NCIT:C120224 MONDO:equivalentTo CIC-Rearranged Sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cic-rearranged sarcoma
+MONDO:0956994 astrocytoma, IDH-mutant, grade 2 NCIT:C129271 MONDO:equivalentTo Astrocytoma, IDH-Mutant, Grade 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade 2
+MONDO:0956995 astrocytoma, IDH-mutant, grade 3 NCIT:C129290 MONDO:equivalentTo Astrocytoma, IDH-Mutant, Grade 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astrocytoma, idh-mutant, grade 3
+MONDO:0957196 diffuse midline glioma, H3 K27M-mutant NCIT:C129309 MONDO:equivalentTo Diffuse Midline Glioma, H3 K27M-Mutant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse midline glioma, h3 k27m-mutant
+MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma NCIT:C96058 MONDO:equivalentTo Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monomorphic epitheliotropic intestinal t-cell lymphoma
MONDO:0958119 embryonal tumor with multilayered rosettes NCIT:C186534 MONDO:equivalentTo Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal tumor with multilayered rosettes
+MONDO:0958159 sarcoma with BCOR genetic alterations NCIT:C178465 MONDO:equivalentTo Sarcoma with BCOR Genetic Alterations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoma with bcor genetic alterations
+MONDO:0958160 round cell sarcoma with EWSR1-non-ETS fusion NCIT:C178459 MONDO:equivalentTo Round Cell Sarcoma with EWSR1-non-ETS Fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label round cell sarcoma with ewsr1-non-ets fusion
+MONDO:0958161 B acute lymphoblastic leukemia with PAX5 P80R mutation NCIT:C199260 MONDO:equivalentTo B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b acute lymphoblastic leukemia with pax5 p80r mutation
+MONDO:0958162 B acute lymphoblastic leukemia with DUX4 rearrangement NCIT:C199232 MONDO:equivalentTo B Acute Lymphoblastic Leukemia with DUX4 Rearrangement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b acute lymphoblastic leukemia with dux4 rearrangement
+MONDO:0958164 poorly differentiated chordoma NCIT:C177898 MONDO:equivalentTo Poorly Differentiated Chordoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poorly differentiated chordoma
+MONDO:0958165 anaplastic sarcoma of the kidney NCIT:C154496 MONDO:equivalentTo Anaplastic Sarcoma of the Kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic sarcoma of the kidney
diff --git a/src/ontology/lexmatch/unmapped_omim_lex.tsv b/src/ontology/lexmatch/unmapped_omim_lex.tsv
index 88feb7dc..3f4e81ac 100644
--- a/src/ontology/lexmatch/unmapped_omim_lex.tsv
+++ b/src/ontology/lexmatch/unmapped_omim_lex.tsv
@@ -1,3 +1,6 @@
subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string
ID A oboInOwl:hasDbXref >A oboInOwl:source
MONDO:0007029 branchio-oto-renal syndrome OMIMPS:113650 MONDO:equivalentTo Branchiootorenal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label branchiootorenal syndrome
+MONDO:0010425 Lisch epithelial corneal dystrophy OMIM:620763 MONDO:equivalentTo corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lisch epithelial corneal dystrophy
+MONDO:0010425 Lisch epithelial corneal dystrophy OMIM:620763 MONDO:equivalentTo corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lisch epithelial corneal dystrophy
+MONDO:0020728 hypouricemia, renal 1 OMIMPS:220150 MONDO:equivalentTo Hypouricemia, renal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypouricemia, renal
diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json
index 55dc4d6b..d4ea8143 100644
--- a/src/ontology/metadata/doid-metrics.json
+++ b/src/ontology/metadata/doid-metrics.json
@@ -4,10 +4,10 @@
"abox_axiom_count_incl": 0,
"annotation_property_count": 27,
"annotation_property_count_incl": 27,
- "axiom_count": 114485,
- "axiom_count_incl": 114485,
- "class_count": 13057,
- "class_count_incl": 13057,
+ "axiom_count": 114627,
+ "axiom_count_incl": 114627,
+ "class_count": 13084,
+ "class_count_incl": 13084,
"dataproperty_count": 0,
"dataproperty_count_incl": 0,
"datatypes_count": 2,
@@ -20,13 +20,13 @@
"expressivity_incl": "C",
"individual_count": 0,
"individual_count_incl": 0,
- "logical_axiom_count": 16033,
- "logical_axiom_count_incl": 16033,
+ "logical_axiom_count": 16084,
+ "logical_axiom_count_incl": 16084,
"obj_property_count": 2,
"obj_property_count_incl": 2,
"ontology_anno_count": 11,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/doid.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/doid.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
@@ -37,13 +37,13 @@
"rdfs": false,
"rule_count": 0,
"rule_count_incl": 0,
- "signature_entity_count": 13088,
- "signature_entity_count_incl": 13088,
+ "signature_entity_count": 13115,
+ "signature_entity_count_incl": 13115,
"syntax": "RDF/XML Syntax",
- "tbox_axiom_count": 16033,
- "tbox_axiom_count_incl": 16033,
- "tboxrbox_axiom_count": 16033,
- "tboxrbox_axiom_count_incl": 16033,
+ "tbox_axiom_count": 16084,
+ "tbox_axiom_count_incl": 16084,
+ "tboxrbox_axiom_count": 16084,
+ "tboxrbox_axiom_count_incl": 16084,
"axiom_types": [
"AnnotationAssertion",
"SubAnnotationPropertyOf",
@@ -67,24 +67,24 @@
"valid_imports": [],
"valid_imports_incl": [],
"axiom_type_count": {
- "AnnotationAssertion": 85367,
+ "AnnotationAssertion": 85431,
"SubAnnotationPropertyOf": 1,
"DisjointClasses": 26,
- "Declaration": 13084,
- "SubClassOf": 16007
+ "Declaration": 13111,
+ "SubClassOf": 16058
},
"axiom_type_count_incl": {
- "AnnotationAssertion": 85367,
+ "AnnotationAssertion": 85431,
"SubAnnotationPropertyOf": 1,
"DisjointClasses": 26,
- "Declaration": 13084,
- "SubClassOf": 16007
+ "Declaration": 13111,
+ "SubClassOf": 16058
},
"class_expression_count": {
- "Class": 45283
+ "Class": 45412
},
"class_expression_count_incl": {
- "Class": 45283
+ "Class": 45412
},
"curie_map": {
"oboInOwl": "http://www.geneontology.org/formats/oboInOwl#",
@@ -111,13 +111,13 @@
"dc": "http://purl.org/dc/terms/"
},
"namespace_axiom_count": {
- "oboInOwl": 57581,
- "owl": 2482,
- "DOID": 43739,
- "HP": 117,
- "skos": 5867,
+ "oboInOwl": 57584,
+ "owl": 2483,
+ "DOID": 43867,
+ "HP": 118,
+ "skos": 5895,
"CL": 61,
- "rdfs": 18518,
+ "rdfs": 18545,
"BFO": 2,
"FOODON": 24,
"NCBITaxon": 322,
@@ -125,7 +125,7 @@
"SYMP": 306,
"dc11": 2,
"rdf": 57,
- "IAO": 2172,
+ "IAO": 2179,
"CHEBI": 90,
"UBERON": 394,
"SO": 17,
@@ -134,13 +134,13 @@
"dc": 1
},
"namespace_axiom_count_incl": {
- "oboInOwl": 57581,
- "owl": 2482,
- "DOID": 43739,
- "HP": 117,
- "skos": 5867,
+ "oboInOwl": 57584,
+ "owl": 2483,
+ "DOID": 43867,
+ "HP": 118,
+ "skos": 5895,
"CL": 61,
- "rdfs": 18518,
+ "rdfs": 18545,
"BFO": 2,
"FOODON": 24,
"NCBITaxon": 322,
@@ -148,7 +148,7 @@
"SYMP": 306,
"dc11": 2,
"rdf": 57,
- "IAO": 2172,
+ "IAO": 2179,
"CHEBI": 90,
"UBERON": 394,
"SO": 17,
@@ -159,8 +159,8 @@
"namespace_entity_count": {
"oboInOwl": 12,
"owl": 2,
- "DOID": 11513,
- "HP": 117,
+ "DOID": 11539,
+ "HP": 118,
"xsd": 1,
"CL": 61,
"skos": 5,
@@ -183,8 +183,8 @@
"namespace_entity_count_incl": {
"oboInOwl": 12,
"owl": 2,
- "DOID": 11513,
- "HP": 117,
+ "DOID": 11539,
+ "HP": 118,
"xsd": 1,
"CL": 61,
"skos": 5,
diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json
index 7b74fab0..92ec9805 100644
--- a/src/ontology/metadata/gard-metrics.json
+++ b/src/ontology/metadata/gard-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 0,
"ontology_anno_count": 1,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/gard.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/gard.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json
index a422f9e7..d32b6cc9 100644
--- a/src/ontology/metadata/icd10cm-metrics.json
+++ b/src/ontology/metadata/icd10cm-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 0,
"ontology_anno_count": 4,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/icd10cm.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/icd10cm.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json
index 84a3242f..2149679e 100644
--- a/src/ontology/metadata/icd10who-metrics.json
+++ b/src/ontology/metadata/icd10who-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 0,
"ontology_anno_count": 4,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/icd10who.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/icd10who.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json
index 8822b82e..1a0f029f 100644
--- a/src/ontology/metadata/ncit-metrics.json
+++ b/src/ontology/metadata/ncit-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 0,
"ontology_anno_count": 7,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/ncit.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/ncit.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": false,
diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json
index b7fd1f72..49539170 100644
--- a/src/ontology/metadata/omim-metrics.json
+++ b/src/ontology/metadata/omim-metrics.json
@@ -4,10 +4,10 @@
"abox_axiom_count_incl": 0,
"annotation_property_count": 18,
"annotation_property_count_incl": 18,
- "axiom_count": 345057,
- "axiom_count_incl": 345057,
- "class_count": 19439,
- "class_count_incl": 19439,
+ "axiom_count": 345359,
+ "axiom_count_incl": 345359,
+ "class_count": 19458,
+ "class_count_incl": 19458,
"dataproperty_count": 0,
"dataproperty_count_incl": 0,
"datatypes_count": 2,
@@ -20,13 +20,13 @@
"expressivity_incl": "E",
"individual_count": 0,
"individual_count_incl": 0,
- "logical_axiom_count": 22622,
- "logical_axiom_count_incl": 22622,
+ "logical_axiom_count": 22654,
+ "logical_axiom_count_incl": 22654,
"obj_property_count": 7,
"obj_property_count_incl": 7,
"ontology_anno_count": 1,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/omim.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/omim.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
@@ -37,13 +37,13 @@
"rdfs": false,
"rule_count": 0,
"rule_count_incl": 0,
- "signature_entity_count": 19466,
- "signature_entity_count_incl": 19466,
+ "signature_entity_count": 19485,
+ "signature_entity_count_incl": 19485,
"syntax": "RDF/XML Syntax",
- "tbox_axiom_count": 22622,
- "tbox_axiom_count_incl": 22622,
- "tboxrbox_axiom_count": 22622,
- "tboxrbox_axiom_count_incl": 22622,
+ "tbox_axiom_count": 22654,
+ "tbox_axiom_count_incl": 22654,
+ "tboxrbox_axiom_count": 22654,
+ "tboxrbox_axiom_count_incl": 22654,
"axiom_types": [
"AnnotationAssertion",
"SubAnnotationPropertyOf",
@@ -65,24 +65,24 @@
"valid_imports": [],
"valid_imports_incl": [],
"axiom_type_count": {
- "AnnotationAssertion": 302974,
+ "AnnotationAssertion": 303225,
"SubAnnotationPropertyOf": 1,
- "Declaration": 19460,
- "SubClassOf": 22622
+ "Declaration": 19479,
+ "SubClassOf": 22654
},
"axiom_type_count_incl": {
- "AnnotationAssertion": 302974,
+ "AnnotationAssertion": 303225,
"SubAnnotationPropertyOf": 1,
- "Declaration": 19460,
- "SubClassOf": 22622
+ "Declaration": 19479,
+ "SubClassOf": 22654
},
"class_expression_count": {
- "Class": 64675,
- "ObjectSomeValuesFrom": 17745
+ "Class": 64758,
+ "ObjectSomeValuesFrom": 17767
},
"class_expression_count_incl": {
- "Class": 64675,
- "ObjectSomeValuesFrom": 17745
+ "Class": 64758,
+ "ObjectSomeValuesFrom": 17767
},
"curie_map": {
"oboInOwl": "http://www.geneontology.org/formats/oboInOwl#",
@@ -99,35 +99,35 @@
"obo": "http://purl.obolibrary.org/obo/"
},
"namespace_axiom_count": {
- "prefix_unknown": 87445,
- "oboInOwl": 91319,
- "MONDO": 18994,
- "rdf": 20888,
- "owl": 1360,
- "IAO": 55202,
- "skos": 80729,
- "rdfs": 39903,
- "biolink": 36718,
- "CHR": 7561,
- "RO": 17752,
+ "prefix_unknown": 87570,
+ "oboInOwl": 91395,
+ "MONDO": 19006,
+ "rdf": 20931,
+ "owl": 1362,
+ "IAO": 55204,
+ "skos": 80834,
+ "rdfs": 39947,
+ "biolink": 36766,
+ "CHR": 7567,
+ "RO": 17774,
"obo": 2
},
"namespace_axiom_count_incl": {
- "prefix_unknown": 87445,
- "oboInOwl": 91319,
- "MONDO": 18994,
- "rdf": 20888,
- "owl": 1360,
- "IAO": 55202,
- "skos": 80729,
- "rdfs": 39903,
- "biolink": 36718,
- "CHR": 7561,
- "RO": 17752,
+ "prefix_unknown": 87570,
+ "oboInOwl": 91395,
+ "MONDO": 19006,
+ "rdf": 20931,
+ "owl": 1362,
+ "IAO": 55204,
+ "skos": 80834,
+ "rdfs": 39947,
+ "biolink": 36766,
+ "CHR": 7567,
+ "RO": 17774,
"obo": 2
},
"namespace_entity_count": {
- "prefix_unknown": 17996,
+ "prefix_unknown": 18015,
"oboInOwl": 4,
"owl": 2,
"xsd": 1,
@@ -142,7 +142,7 @@
"obo": 1
},
"namespace_entity_count_incl": {
- "prefix_unknown": 17996,
+ "prefix_unknown": 18015,
"oboInOwl": 4,
"owl": 2,
"xsd": 1,
diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json
index e4e671da..0eacd6d5 100644
--- a/src/ontology/metadata/ordo-metrics.json
+++ b/src/ontology/metadata/ordo-metrics.json
@@ -26,7 +26,7 @@
"obj_property_count_incl": 4,
"ontology_anno_count": 12,
"ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl",
- "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-03-15/ordo.owl",
+ "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-04-07/ordo.owl",
"owl2": true,
"owl2_dl": true,
"owl2_el": true,
diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile
index 129db7e5..e0826f9b 100644
--- a/src/ontology/mondo-ingest.Makefile
+++ b/src/ontology/mondo-ingest.Makefile
@@ -335,7 +335,7 @@ build-mondo-ingest:
$(MAKE) refresh-imports exclusions-all slurp-all mappings matches \
mapped-deprecated-terms mapping-progress-report \
recreate-unmapped-components sync documentation \
- refresh-externally-managed-content \
+ update-externally-managed-content \
prepare_release
echo "Mondo Ingest has been fully completed"
@@ -344,7 +344,7 @@ build-mondo-ingest-no-imports:
$(MAKE_FAST) exclusions-all slurp-all mappings matches \
mapped-deprecated-terms mapping-progress-report \
recreate-unmapped-components sync documentation \
- refresh-externally-managed-content \
+ update-externally-managed-content \
prepare_release
echo "Mondo Ingest (fast) has been fully completed"
@@ -568,7 +568,7 @@ $(EXTERNAL_CONTENT_DIR)/nord.robot.tsv: $(TMPDIR)/nord.tsv config/external-conte
.PHONY: external-content-nord
external-content-nord: $(EXTERNAL_CONTENT_DIR)/nord.robot.owl
-refresh-externally-managed-content: external-content-nord
+update-externally-managed-content: external-content-nord
#############################
######### Analysis ##########
@@ -693,5 +693,5 @@ help:
@echo "reports/sync-subClassOf.confirmed.tsv"
@echo "For all subclass relationships in Mondo, by source, a robot template containing showing what is in Mondo and are confirmed to also exist in the source. Combination of all --outpath-confirmed outputs for all sources.\n"
# - Refresh externally managed content
- @echo "refresh-externally-managed-content"
+ @echo "update-externally-managed-content"
@echo "Downloads and processes all externally managed content like cross references, subsets and labels, including NORD and GARD.\n"
\ No newline at end of file
diff --git a/src/ontology/reports/component_signature-doid.tsv b/src/ontology/reports/component_signature-doid.tsv
index 95b85311..d3c36b4d 100644
--- a/src/ontology/reports/component_signature-doid.tsv
+++ b/src/ontology/reports/component_signature-doid.tsv
@@ -461,7 +461,6 @@
-
@@ -1719,6 +1718,18 @@
+
+
+
+
+
+
+
+
+
+
+
+
@@ -2242,6 +2253,7 @@
+
@@ -3603,6 +3615,20 @@
+
+
+
+
+
+
+
+
+
+
+
+
+
+
@@ -11802,6 +11828,7 @@
+
diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv
index 244c6525..acb50c65 100644
--- a/src/ontology/reports/component_signature-omim.tsv
+++ b/src/ontology/reports/component_signature-omim.tsv
@@ -1893,6 +1893,7 @@
+
@@ -4306,6 +4307,7 @@
+
@@ -7028,6 +7030,7 @@
+
@@ -7390,6 +7393,7 @@
+
@@ -7480,7 +7484,6 @@
-
@@ -10865,6 +10868,7 @@
+
@@ -15486,6 +15490,7 @@
+
@@ -15937,6 +15942,7 @@
+
@@ -16113,6 +16119,7 @@
+
@@ -17705,6 +17712,7 @@
+
@@ -17802,7 +17810,20 @@
+
+
+
+
+
+
+
+
+
+
+
+
+
@@ -18060,6 +18081,7 @@
+
@@ -18595,7 +18617,6 @@
-
@@ -18645,7 +18666,6 @@
-
@@ -19055,7 +19075,6 @@
-
diff --git a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv
index 50aa7bfe..4ff6a679 100644
--- a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv
+++ b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv
@@ -111,7 +111,6 @@ MONDO:0002176 obsolete connective tissue cancer MONDO:0003900 DOID:201 DOID:65 c
MONDO:0002264 obsolete atrophy of prostate MONDO:0003105 DOID:2301 DOID:47 prostate disorder
MONDO:0002320 congenital nervous system disorder MONDO:0000839 DOID:2490 DOID:0080015 obsolete congenital abnormality
MONDO:0002324 obsolete enamel erosion MONDO:0002325 DOID:2497 DOID:2498 tooth erosion, non-bacterial
-MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO:0002336 DOID:2536 DOID:2537 obsolete inflammatory and toxic neuropathy
MONDO:0002336 obsolete inflammatory and toxic neuropathy MONDO:0005244 DOID:2537 DOID:870 peripheral neuropathy
MONDO:0002350 familial nephrotic syndrome MONDO:0000275 DOID:2590 DOID:0050177 obsolete monogenic disease
MONDO:0002402 malignant giant cell tumor MONDO:0002176 DOID:2705 DOID:201 obsolete connective tissue cancer
@@ -165,6 +164,7 @@ MONDO:0005128 obsolete sensory system disease MONDO:0005071 DOID:0050155 DOID:86
MONDO:0005129 cataract MONDO:0000275 DOID:83 DOID:0050177 obsolete monogenic disease
MONDO:0005151 endocrine system disorder MONDO:0021199 DOID:28 DOID:7 obsolete disease by anatomical system
MONDO:0005164 fibrosarcoma MONDO:0002176 DOID:3355 DOID:201 obsolete connective tissue cancer
+MONDO:0005190 obsolete macroglobulinemia MONDO:0002273 DOID:9080 DOID:2345 plasma protein metabolism disease
MONDO:0005308 ciliopathy MONDO:0000275 DOID:0060340 DOID:0050177 obsolete monogenic disease
MONDO:0005328 eye disorder MONDO:0005128 DOID:5614 DOID:0050155 obsolete sensory system disease
MONDO:0005340 alopecia areata MONDO:0017841 DOID:986 DOID:0060039 obsolete autoimmune disease with skin involvement
@@ -434,3 +434,6 @@ MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:00
MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0000839 DOID:0060731 DOID:0080015 obsolete congenital abnormality
MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 MONDO:0000839 DOID:0090118 DOID:0080015 obsolete congenital abnormality
MONDO:0850301 pemphigoid MONDO:0017841 DOID:0080841 DOID:0060039 obsolete autoimmune disease with skin involvement
+MONDO:0956985 lipofibromatosis-like neural tumor MONDO:0002176 DOID:0080894 DOID:201 obsolete connective tissue cancer
+MONDO:0956986 solitary fibrous tumor/hemangiopericytoma MONDO:0002176 DOID:0080897 DOID:201 obsolete connective tissue cancer
+MONDO:0957912 organophosphate-induced delayed polyneuropathy MONDO:0002336 DOID:0081393 DOID:2537 obsolete inflammatory and toxic neuropathy
diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv
index 49143129..438cfb9f 100644
--- a/src/ontology/reports/doid.subclass.added.robot.tsv
+++ b/src/ontology/reports/doid.subclass.added.robot.tsv
@@ -57,7 +57,6 @@ MONDO:0000584 B cell linker protein deficiency MONDO:0006025 DOID:0060027 DOID:0
MONDO:0000587 autoimmune disease of ear, nose and throat MONDO:0002977 DOID:0060030 DOID:438 autoimmune disorder of the nervous system
MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0000430 DOID:0060061 DOID:0050749 mature T-cell and NK-cell non-Hodgkin lymphoma
MONDO:0000640 central nervous system primitive neuroectodermal neoplasm MONDO:0002731 DOID:0060103 DOID:368 cerebral hemisphere cancer
-MONDO:0000642 brain meningioma MONDO:0001657 DOID:0060106 DOID:1319 brain cancer
MONDO:0000650 peritoneal benign neoplasm MONDO:0000634 DOID:0060117 DOID:0060097 thoracic benign neoplasm
MONDO:0000665 apraxia MONDO:0005638 DOID:0060135 DOID:4090 agnosia
MONDO:0000715 lymph node adenoid cystic carcinoma MONDO:0850151 DOID:0060219 DOID:0080618 lymph node carcinoma
@@ -69,7 +68,6 @@ MONDO:0000774 autoimmune neuropathy MONDO:0000568 DOID:0060499 DOID:0060004 auto
MONDO:0000812 vertebral column disorder MONDO:0005381 DOID:0060564 DOID:0080001 bone disorder
MONDO:0000816 abdominal obesity-metabolic syndrome MONDO:0000426 DOID:0060611 DOID:0050736 autosomal dominant disease
MONDO:0000820 cerebral cavernous malformation MONDO:0011057 DOID:0060669 DOID:6713 cerebrovascular disorder
-MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0003540 DOID:0080145 DOID:5603 acute T cell leukemia
MONDO:0000874 T-cell childhood lymphoblastic lymphoma MONDO:0015760 DOID:0080148 DOID:0081312 T-cell non-Hodgkin lymphoma
MONDO:0000898 malignant hemangioma MONDO:0002095 DOID:0080189 DOID:175 vascular cancer
MONDO:0000898 malignant hemangioma MONDO:0005089 DOID:0080189 DOID:1115 sarcoma
@@ -227,6 +225,7 @@ MONDO:0002353 glottis neoplasm MONDO:0002354 DOID:2597 DOID:2598 benign laryngea
MONDO:0002365 kidney hemangiopericytoma MONDO:0002367 DOID:262 DOID:263 kidney cancer
MONDO:0002370 ovarian Brenner tumor MONDO:0000646 DOID:2636 DOID:0060112 ovarian benign neoplasm
MONDO:0002373 benign mesothelioma MONDO:0002603 DOID:2645 DOID:3314 angiomyolipoma
+MONDO:0002379 cystic teratoma MONDO:0956962 DOID:2660 DOID:0080602 benign teratoma
MONDO:0002380 myoepithelial tumor MONDO:0002381 DOID:2661 DOID:2664 sweat gland neoplasm
MONDO:0002385 benign cystic nephroma MONDO:0850149 DOID:2673 DOID:0080615 nephroma
MONDO:0002388 intracystic papillary adenoma MONDO:0004972 DOID:2682 DOID:657 adenoma
@@ -365,6 +364,7 @@ MONDO:0003253 vulvar granular cell tumor MONDO:0000643 DOID:5043 DOID:0060109 vu
MONDO:0003255 mediastinal granular cell myoblastoma MONDO:0004398 DOID:5046 DOID:6175 mediastinal schwannoma
MONDO:0003257 posterior pituitary gland neoplasm MONDO:0021439 DOID:5048 DOID:60009 benign neoplasm of pituitary gland
MONDO:0003261 papillary meningioma of the cerebellum MONDO:0003262 DOID:5057 DOID:5058 rhabdoid meningioma
+MONDO:0003261 papillary meningioma of the cerebellum MONDO:0850302 DOID:5057 DOID:0060106 intracranial meningioma
MONDO:0003268 mixed glioma MONDO:0100342 DOID:5076 DOID:3070 malignant glioma
MONDO:0003272 mixed epithelial stromal tumor MONDO:0005853 DOID:5088 DOID:154 malignant mixed neoplasm
MONDO:0003277 malignant ear neoplasm MONDO:0004532 DOID:5101 DOID:833 auditory system cancer
@@ -418,12 +418,13 @@ MONDO:0003506 pulmonary artery choriocarcinoma MONDO:0851102 DOID:5547 DOID:6000
MONDO:0003512 mediastinal mesenchymal tumor MONDO:0005843 DOID:5560 DOID:5559 mediastinal cancer
MONDO:0003513 gastric teratoma MONDO:0001056 DOID:5561 DOID:10534 gastric cancer
MONDO:0003515 fallopian tube teratoma MONDO:0002158 DOID:5564 DOID:1964 fallopian tube cancer
+MONDO:0003516 adult teratoma MONDO:0956962 DOID:5565 DOID:0080602 benign teratoma
MONDO:0003518 mediastinum teratoma MONDO:0005843 DOID:5568 DOID:5559 mediastinal cancer
MONDO:0003519 malignant syringoma MONDO:0005506 DOID:5569 DOID:4921 eccrine sweat gland cancer
MONDO:0003522 male orgasm disorder MONDO:0003150 DOID:5576 DOID:48 male reproductive system disorder
MONDO:0003524 gastric gastrin-producing neuroendocrine tumor MONDO:0001056 DOID:5579 DOID:10534 gastric cancer
MONDO:0003528 Volkmann contracture MONDO:0003900 DOID:5587 DOID:65 connective tissue disorder
-MONDO:0003540 acute T cell leukemia MONDO:0015760 DOID:5603 DOID:0081312 T-cell non-Hodgkin lymphoma
+MONDO:0003539 T-cell adult acute lymphocytic leukemia MONDO:0004963 DOID:5602 DOID:5603 T-cell acute lymphoblastic leukemia
MONDO:0003545 intradural extramedullary spinal canal neoplasm MONDO:0003544 DOID:5615 DOID:5612 spinal cord cancer
MONDO:0003562 rete testis neoplasm MONDO:0005836 DOID:5639 DOID:3856 male reproductive organ cancer
MONDO:0003565 urethral villous adenoma MONDO:0004177 DOID:5643 DOID:730 benign urethral neoplasm
@@ -596,6 +597,7 @@ MONDO:0004942 orbit lymphoma MONDO:0005062 DOID:9986 DOID:0060058 lymphoma
MONDO:0004944 neurosyphilis MONDO:0002545 DOID:9988 DOID:319 spinal cord disorder
MONDO:0004944 neurosyphilis MONDO:0005560 DOID:9988 DOID:936 brain disorder
MONDO:0004947 B-cell acute lymphoblastic leukemia MONDO:0020511 DOID:0080630 DOID:0080638 precursor B-cell acute lymphoblastic leukemia
+MONDO:0004963 T-cell acute lymphoblastic leukemia MONDO:0015760 DOID:5603 DOID:0081312 T-cell non-Hodgkin lymphoma
MONDO:0004971 adenoid cystic carcinoma MONDO:0006998 DOID:0080202 DOID:8858 tonsil cancer
MONDO:0004972 adenoma MONDO:0005165 DOID:657 DOID:0060084 benign neoplasm
MONDO:0004974 adrenal gland pheochromocytoma MONDO:0006288 DOID:0050892 DOID:0080347 malignant adrenal gland pheochromocytoma
@@ -761,6 +763,7 @@ MONDO:0006351 parachordoma MONDO:0002616 DOID:2647 DOID:3350 mesenchymal cell ne
MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation MONDO:0002604 DOID:2643 DOID:3316 pericytic neoplasm
MONDO:0006369 pineal parenchymal tumor of intermediate differentiation MONDO:0016722 DOID:5030 DOID:1664 pineoblastoma
MONDO:0006373 pituitary gland adenoma MONDO:0021439 DOID:3829 DOID:60009 benign neoplasm of pituitary gland
+MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions MONDO:0017886 DOID:0081415 DOID:0081413 MIT family translocation renal cell carcinoma
MONDO:0006409 signet ring cell gastric adenocarcinoma MONDO:0005017 DOID:8025 DOID:6217 diffuse gastric adenocarcinoma
MONDO:0006411 sinonasal undifferentiated carcinoma MONDO:0000380 DOID:0080799 DOID:0050619 paranasal sinus carcinoma
MONDO:0006411 sinonasal undifferentiated carcinoma MONDO:0003212 DOID:0080799 DOID:4931 nasal cavity carcinoma
@@ -882,8 +885,6 @@ MONDO:0007216 brachydactyly type A2 MONDO:0000426 DOID:0110965 DOID:0050736 auto
MONDO:0007221 brachydactyly type C MONDO:0000426 DOID:0110970 DOID:0050736 autosomal dominant disease
MONDO:0007222 brachydactyly type D MONDO:0000426 DOID:0110971 DOID:0050736 autosomal dominant disease
MONDO:0007235 branchiooculofacial syndrome MONDO:0002254 DOID:0050691 DOID:225 syndromic disease
-MONDO:0007239 epidermolytic ichthyosis MONDO:0000426 DOID:0081358 DOID:0050736 autosomal dominant disease
-MONDO:0007239 epidermolytic ichthyosis MONDO:0007239 DOID:0081358 DOID:4603 epidermolytic ichthyosis
MONDO:0007240 progressive familial heart block, type 1A MONDO:0000426 DOID:0111074 DOID:0050736 autosomal dominant disease
MONDO:0007251 campomelic dysplasia MONDO:0000426 DOID:0050463 DOID:0050736 autosomal dominant disease
MONDO:0007252 Gordon syndrome MONDO:0000426 DOID:0111607 DOID:0050736 autosomal dominant disease
@@ -957,7 +958,7 @@ MONDO:0007496 dystonia 12 MONDO:0000426 DOID:0090056 DOID:0050736 autosomal domi
MONDO:0007507 absence of fingerprints-congenital milia syndrome MONDO:0019287 DOID:0080725 DOID:2121 ectodermal dysplasia syndrome
MONDO:0007510 Clouston syndrome MONDO:0000426 DOID:14693 DOID:0050736 autosomal dominant disease
MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant MONDO:0000426 DOID:0111150 DOID:0050736 autosomal dominant disease
-MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0000426 DOID:0080727 DOID:0050736 autosomal dominant disease
+MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type MONDO:0000426 DOID:0080727 DOID:0050736 autosomal dominant disease
MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0006025 DOID:0050802 DOID:0050737 autosomal recessive disease
MONDO:0007537 lateral meningocele syndrome MONDO:0000426 DOID:0111343 DOID:0050736 autosomal dominant disease
MONDO:0007537 lateral meningocele syndrome MONDO:0002254 DOID:0111343 DOID:225 syndromic disease
@@ -983,9 +984,12 @@ MONDO:0007615 laurin-Sandrow syndrome MONDO:0000426 DOID:0111350 DOID:0050736 au
MONDO:0007615 laurin-Sandrow syndrome MONDO:0018234 DOID:0111350 DOID:1934 dysostosis
MONDO:0007621 Floating-Harbor syndrome MONDO:0000426 DOID:0111358 DOID:0050736 autosomal dominant disease
MONDO:0007621 Floating-Harbor syndrome MONDO:0002254 DOID:0111358 DOID:225 syndromic disease
+MONDO:0007628 foveal hypoplasia 1 MONDO:0000426 DOID:0070530 DOID:0050736 autosomal dominant disease
+MONDO:0007628 foveal hypoplasia 1 MONDO:0005283 DOID:0070530 DOID:5679 retinal disorder
MONDO:0007636 frontorhiny MONDO:0006025 DOID:0081045 DOID:0050737 autosomal recessive disease
MONDO:0007640 Sorsby fundus dystrophy MONDO:0000426 DOID:0090114 DOID:0050736 autosomal dominant disease
MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0000426 DOID:0080764 DOID:0050736 autosomal dominant disease
+MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0957519 DOID:0080764 DOID:0080763 diffuse gastric cancer
MONDO:0007662 anterior segment dysgenesis 4 MONDO:0000426 DOID:0080609 DOID:0050736 autosomal dominant disease
MONDO:0007672 glomuvenous malformation MONDO:0002299 DOID:7996 DOID:2436 glomangioma
MONDO:0007686 gray platelet syndrome MONDO:0006025 DOID:0111044 DOID:0050737 autosomal recessive disease
@@ -999,6 +1003,7 @@ MONDO:0007726 hip dysplasia, Beukes type MONDO:0000426 DOID:0111367 DOID:0050736
MONDO:0007726 hip dysplasia, Beukes type MONDO:0005178 DOID:0111367 DOID:8398 osteoarthritis
MONDO:0007727 autosomal dominant familial periodic fever MONDO:0000426 DOID:0090018 DOID:0050736 autosomal dominant disease
MONDO:0007727 autosomal dominant familial periodic fever MONDO:0003778 DOID:0090018 DOID:612 inborn error of immunity
+MONDO:0007729 developmental dysplasia of the hip 1 MONDO:0000426 DOID:0060931 DOID:0050736 autosomal dominant disease
MONDO:0007733 holoprosencephaly 3 MONDO:0000426 DOID:0110875 DOID:0050736 autosomal dominant disease
MONDO:0007734 holoprosencephaly 4 MONDO:0000426 DOID:0110880 DOID:0050736 autosomal dominant disease
MONDO:0007744 cholesterol-ester transfer protein deficiency MONDO:0000426 DOID:0111369 DOID:0050736 autosomal dominant disease
@@ -1040,12 +1045,16 @@ MONDO:0007866 Bart-Pumphrey syndrome MONDO:0002254 DOID:0050658 DOID:225 syndrom
MONDO:0007867 nonsyndromic congenital nail disorder 2 MONDO:0000426 DOID:0080080 DOID:0050736 autosomal dominant disease
MONDO:0007868 hyperekplexia 1 MONDO:0000426 DOID:0060696 DOID:0050736 autosomal dominant disease
MONDO:0007868 hyperekplexia 1 MONDO:0006025 DOID:0060696 DOID:0050737 autosomal recessive disease
+MONDO:0007872 LADD syndrome MONDO:0002254 DOID:0081370 DOID:225 syndromic disease
+MONDO:0007872 LADD syndrome MONDO:0007872 DOID:0050331 DOID:0081370 LADD syndrome
MONDO:0007875 Larsen syndrome MONDO:0002254 DOID:14764 DOID:225 syndromic disease
MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:0000426 DOID:0111507 DOID:0050736 autosomal dominant disease
MONDO:0007895 platyspondylic dysplasia, Torrance type MONDO:0005516 DOID:0111508 DOID:2256 osteochondrodysplasia
MONDO:0007900 nonsyndromic congenital nail disorder 3 MONDO:0000426 DOID:0080081 DOID:0050736 autosomal dominant disease
MONDO:0007900 nonsyndromic congenital nail disorder 3 MONDO:0006025 DOID:0080081 DOID:0050737 autosomal recessive disease
MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0000426 DOID:0070202 DOID:0050736 autosomal dominant disease
+MONDO:0007909 familial multiple lipomatosis MONDO:0000426 DOID:0070518 DOID:0050736 autosomal dominant disease
+MONDO:0007909 familial multiple lipomatosis MONDO:0006574 DOID:0070518 DOID:3153 lipomatosis
MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0000426 DOID:0060349 DOID:0050736 autosomal dominant disease
MONDO:0007919 lymphatic malformation 1 MONDO:0000426 DOID:0070210 DOID:0050736 autosomal dominant disease
MONDO:0007920 lymphatic malformation 5 MONDO:0000426 DOID:0070213 DOID:0050736 autosomal dominant disease
@@ -1528,6 +1537,7 @@ MONDO:0009720 Keipert syndrome MONDO:0020605 DOID:0111842 DOID:0080012 X-linked
MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:0006025 DOID:0060346 DOID:0050737 autosomal recessive disease
MONDO:0009723 Leigh syndrome MONDO:0009068 DOID:3652 DOID:3762 cytochrome-c oxidase deficiency disease
MONDO:0009725 nemaline myopathy 2 MONDO:0006025 DOID:0110928 DOID:0050737 autosomal recessive disease
+MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0009726 DOID:0050553 DOID:0060913 proteosome-associated autoinflammatory syndrome
MONDO:0009732 congenital nephrotic syndrome, Finnish type MONDO:0006025 DOID:0080390 DOID:0050737 autosomal recessive disease
MONDO:0009733 nephrotic syndrome, type 4 MONDO:0000426 DOID:0080383 DOID:0050736 autosomal dominant disease
MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 MONDO:0000426 DOID:0070219 DOID:0050736 autosomal dominant disease
@@ -1590,6 +1600,7 @@ MONDO:0009984 late-adult onset retinitis pigmentosa MONDO:0006025 DOID:0110421 D
MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy MONDO:0006025 DOID:0110422 DOID:0050737 autosomal recessive disease
MONDO:0009990 Revesz syndrome MONDO:0000426 DOID:0070026 DOID:0050736 autosomal dominant disease
MONDO:0010008 sarcosinemia MONDO:0006025 DOID:0112307 DOID:0050737 autosomal recessive disease
+MONDO:0010010 Schinzel-Giedion syndrome MONDO:0000426 DOID:0070509 DOID:0050736 autosomal dominant disease
MONDO:0010015 anterior segment dysgenesis 7 MONDO:0006025 DOID:0080612 DOID:0050737 autosomal recessive disease
MONDO:0010016 sclerosteosis 1 MONDO:0006025 DOID:0060756 DOID:0050737 autosomal recessive disease
MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:0001222 DOID:0111943 DOID:11200 congenital T-cell immunodeficiency
@@ -2254,6 +2265,7 @@ MONDO:0012105 granulomatosis with polyangiitis MONDO:0005093 DOID:12132 DOID:37
MONDO:0012105 granulomatosis with polyangiitis MONDO:0005275 DOID:12132 DOID:850 lung disorder
MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 MONDO:0005579 DOID:0111318 DOID:1827 epilepsy, idiopathic generalized
MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0006025 DOID:0080564 DOID:0050737 autosomal recessive disease
+MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0006025 DOID:0070257 DOID:0050737 autosomal recessive disease
MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0006025 DOID:0080557 DOID:0050737 autosomal recessive disease
MONDO:0012125 hypomyelinating leukodystrophy 2 MONDO:0006025 DOID:0060787 DOID:0050737 autosomal recessive disease
MONDO:0012130 myofibrillar myopathy 2 MONDO:0018943 DOID:0080093 DOID:0080307 myofibrillar myopathy
@@ -2282,6 +2294,8 @@ MONDO:0012199 posterior polymorphous corneal dystrophy 2 MONDO:0000426 DOID:0110
MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor MONDO:0000426 DOID:0081101 DOID:0050736 autosomal dominant disease
MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0006025 DOID:0080558 DOID:0050737 autosomal recessive disease
MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0006025 DOID:0110777 DOID:0050737 autosomal recessive disease
+MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0005283 DOID:0070531 DOID:5679 retinal disorder
+MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0006025 DOID:0070531 DOID:0050737 autosomal recessive disease
MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type MONDO:0006025 DOID:0112291 DOID:0050737 autosomal recessive disease
MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 MONDO:0000426 DOID:0110155 DOID:0050736 autosomal dominant disease
MONDO:0012237 nemaline myopathy 6 MONDO:0000426 DOID:0110935 DOID:0050736 autosomal dominant disease
@@ -2294,10 +2308,12 @@ MONDO:0012256 hereditary spastic paraplegia 28 MONDO:0006025 DOID:0110779 DOID:0
MONDO:0012260 cataract 35 MONDO:0006025 DOID:0110261 DOID:0050737 autosomal recessive disease
MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c MONDO:0000426 DOID:0081019 DOID:0050736 autosomal dominant disease
MONDO:0012270 Tukel syndrome MONDO:0006025 DOID:0081021 DOID:0050737 autosomal recessive disease
+MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0000426 DOID:0070442 DOID:0050736 autosomal dominant disease
+MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0003441 DOID:0070442 DOID:543 dystonic disorder
MONDO:0012280 Goldberg-Shprintzen syndrome MONDO:0006025 DOID:0060481 DOID:0050737 autosomal recessive disease
MONDO:0012289 myofibrillar myopathy 5 MONDO:0000426 DOID:0080096 DOID:0050736 autosomal dominant disease
MONDO:0012290 CEDNIK syndrome MONDO:0006025 DOID:0060337 DOID:0050737 autosomal recessive disease
-MONDO:0012297 SPOAN syndrome MONDO:0006025 DOID:0060491 DOID:0050737 autosomal recessive disease
+MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy MONDO:0006025 DOID:0060491 DOID:0050737 autosomal recessive disease
MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0006025 DOID:0080120 DOID:0050737 autosomal recessive disease
MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant MONDO:0000426 DOID:0080682 DOID:0050736 autosomal dominant disease
MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant MONDO:0000858 DOID:0080682 DOID:0080072 neuronal intestinal dysplasia
@@ -2382,6 +2398,8 @@ MONDO:0012592 osteogenesis imperfecta type 11 MONDO:0006025 DOID:0110351 DOID:00
MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:0000426 DOID:0090054 DOID:0050736 autosomal dominant disease
MONDO:0012604 isolated microphthalmia 3 MONDO:0006025 DOID:0060842 DOID:0050737 autosomal recessive disease
MONDO:0012605 isolated microphthalmia 5 MONDO:0006025 DOID:0060837 DOID:0050737 autosomal recessive disease
+MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0002254 DOID:0070511 DOID:225 syndromic disease
+MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0006025 DOID:0070511 DOID:0050737 autosomal recessive disease
MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0006025 DOID:0112072 DOID:0050737 autosomal recessive disease
MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0100223 DOID:0112072 DOID:0112065 mitochondrial complex I deficiency, nuclear type
MONDO:0012625 retinitis pigmentosa 37 MONDO:0000426 DOID:0110399 DOID:0050736 autosomal dominant disease
@@ -2398,6 +2416,7 @@ MONDO:0012651 spastic ataxia 2 MONDO:0006025 DOID:0050941 DOID:0050737 autosomal
MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 MONDO:0009696 DOID:0111327 DOID:4890 juvenile myoclonic epilepsy
MONDO:0012665 cataract 33 MONDO:0000426 DOID:0110264 DOID:0050736 autosomal dominant disease
MONDO:0012665 cataract 33 MONDO:0006025 DOID:0110264 DOID:0050737 autosomal recessive disease
+MONDO:0012669 Legius syndrome MONDO:0000426 DOID:0070484 DOID:0050736 autosomal dominant disease
MONDO:0012682 immunodeficiency 35 MONDO:0003778 DOID:0111989 DOID:612 inborn error of immunity
MONDO:0012682 immunodeficiency 35 MONDO:0006025 DOID:0111989 DOID:0050737 autosomal recessive disease
MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 MONDO:0000426 DOID:0110083 DOID:0050736 autosomal dominant disease
@@ -2526,7 +2545,6 @@ MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-enc
MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 MONDO:0000426 DOID:0080528 DOID:0050736 autosomal dominant disease
MONDO:0013120 46,XY sex reversal 5 MONDO:0006025 DOID:0111776 DOID:0050737 autosomal recessive disease
MONDO:0013123 atrial septal defect 6 MONDO:0000426 DOID:0110111 DOID:0050736 autosomal dominant disease
-MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0006025 DOID:0050549 DOID:0050737 autosomal recessive disease
MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0006025 DOID:0110087 DOID:0050737 autosomal recessive disease
MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B MONDO:0006025 DOID:0070150 DOID:0050737 autosomal recessive disease
MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency MONDO:0000426 DOID:0111903 DOID:0050736 autosomal dominant disease
@@ -2864,6 +2882,7 @@ MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO
MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:0015131 DOID:0111982 DOID:628 combined immunodeficiency
MONDO:0014083 agammaglobulinemia 7, autosomal recessive MONDO:0006025 DOID:0081139 DOID:0050737 autosomal recessive disease
MONDO:0014086 osteogenesis imperfecta type 15 MONDO:0006025 DOID:0110347 DOID:0050737 autosomal recessive disease
+MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MONDO:0006025 DOID:0070462 DOID:0050737 autosomal recessive disease
MONDO:0014092 schizophrenia 18 MONDO:0005090 DOID:0070093 DOID:5419 schizophrenia
MONDO:0014095 dilated cardiomyopathy 1JJ MONDO:0000426 DOID:0110438 DOID:0050736 autosomal dominant disease
MONDO:0014098 CIDEC-related familial partial lipodystrophy MONDO:0006025 DOID:0070203 DOID:0050737 autosomal recessive disease
@@ -2947,6 +2966,7 @@ MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0001222
MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0006025 DOID:0060018 DOID:0050737 autosomal recessive disease
MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0006025 DOID:0111973 DOID:0050737 autosomal recessive disease
MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0015974 DOID:0060018 DOID:627 severe combined immunodeficiency
+MONDO:0014277 developmental dysplasia of the hip 2 MONDO:0000426 DOID:0060932 DOID:0050736 autosomal dominant disease
MONDO:0014278 immunodeficiency 18 MONDO:0003778 DOID:0111971 DOID:612 inborn error of immunity
MONDO:0014278 immunodeficiency 18 MONDO:0006025 DOID:0060017 DOID:0050737 autosomal recessive disease
MONDO:0014278 immunodeficiency 18 MONDO:0006025 DOID:0111971 DOID:0050737 autosomal recessive disease
@@ -3006,6 +3026,7 @@ MONDO:0014383 myopathy, tubular aggregate, 2 MONDO:0000426 DOID:0080686 DOID:005
MONDO:0014384 hypotrichosis 12 MONDO:0000426 DOID:0110709 DOID:0050736 autosomal dominant disease
MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 MONDO:0006025 DOID:0110063 DOID:0050737 autosomal recessive disease
MONDO:0014386 platelet-type bleeding disorder 18 MONDO:0006025 DOID:0111051 DOID:0050737 autosomal recessive disease
+MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure MONDO:0006025 DOID:0070396 DOID:0050737 autosomal recessive disease
MONDO:0014388 familial median cleft of the upper and lower lips MONDO:0006025 DOID:0080407 DOID:0050737 autosomal recessive disease
MONDO:0014390 hypotrichosis 13 MONDO:0000426 DOID:0110710 DOID:0050736 autosomal dominant disease
MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency MONDO:0006025 DOID:0111938 DOID:0050737 autosomal recessive disease
@@ -3015,6 +3036,7 @@ MONDO:0014394 Diamond-Blackfan anemia 13 MONDO:0000426 DOID:0111889 DOID:0050736
MONDO:0014396 dilated cardiomyopathy 1NN MONDO:0000426 DOID:0110432 DOID:0050736 autosomal dominant disease
MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO:0006025 DOID:0111478 DOID:0050737 autosomal recessive disease
MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO:0006025 DOID:0111465 DOID:0050737 autosomal recessive disease
+MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0015244 DOID:0081385 DOID:0050950 autosomal recessive cerebellar ataxia
MONDO:0014400 retinitis pigmentosa 70 MONDO:0000426 DOID:0110392 DOID:0050736 autosomal dominant disease
MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:0000426 DOID:0070316 DOID:0050736 autosomal dominant disease
MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:0005497 DOID:0070316 DOID:0080006 bone development disease
@@ -3080,6 +3102,8 @@ MONDO:0014565 cataract 43 MONDO:0000426 DOID:0110259 DOID:0050736 autosomal domi
MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U MONDO:0000426 DOID:0110173 DOID:0050736 autosomal dominant disease
MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0000426 DOID:0110818 DOID:0050736 autosomal dominant disease
MONDO:0014571 optic atrophy 9 MONDO:0006025 DOID:0111442 DOID:0050737 autosomal recessive disease
+MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0005093 DOID:0070526 DOID:37 skin disorder
+MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0006025 DOID:0070526 DOID:0050737 autosomal recessive disease
MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly MONDO:0006025 DOID:0110093 DOID:0050737 autosomal recessive disease
MONDO:0014578 congenital myasthenic syndrome 17 MONDO:0006025 DOID:0110674 DOID:0050737 autosomal recessive disease
MONDO:0014581 congenital myasthenic syndrome 2A MONDO:0000426 DOID:0110681 DOID:0050736 autosomal dominant disease
@@ -3117,7 +3141,6 @@ MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma MONDO:00
MONDO:0014625 developmental and epileptic encephalopathy, 33 MONDO:0000426 DOID:0080463 DOID:0050736 autosomal dominant disease
MONDO:0014627 dystonia 27 MONDO:0006025 DOID:0090050 DOID:0050737 autosomal recessive disease
MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0000426 DOID:0081242 DOID:0050736 autosomal dominant disease
-MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0002254 DOID:0081242 DOID:225 syndromic disease
MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0007179 DOID:0081242 DOID:417 autoimmune disease
MONDO:0014630 familial adenomatous polyposis 3 MONDO:0006025 DOID:0080411 DOID:0050737 autosomal recessive disease
MONDO:0014632 hypomyelinating leukodystrophy 10 MONDO:0006025 DOID:0060788 DOID:0050737 autosomal recessive disease
@@ -3166,6 +3189,7 @@ MONDO:0014717 early-onset Lafora body disease MONDO:0006025 DOID:0111445 DOID:00
MONDO:0014718 developmental and epileptic encephalopathy, 34 MONDO:0006025 DOID:0080460 DOID:0050737 autosomal recessive disease
MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0006025 DOID:0080458 DOID:0050737 autosomal recessive disease
MONDO:0014720 autosomal dominant optic atrophy plus syndrome MONDO:0002254 DOID:0111340 DOID:225 syndromic disease
+MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0019502 DOID:0070537 DOID:0060308 autosomal recessive non-syndromic intellectual disability
MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X MONDO:0006025 DOID:0110176 DOID:0050737 autosomal recessive disease
MONDO:0014727 immunodeficiency 45 MONDO:0003778 DOID:0111994 DOID:612 inborn error of immunity
MONDO:0014727 immunodeficiency 45 MONDO:0006025 DOID:0111994 DOID:0050737 autosomal recessive disease
@@ -3202,6 +3226,7 @@ MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation
MONDO:0014813 hypomyelinating leukodystrophy 13 MONDO:0006025 DOID:0060795 DOID:0050737 autosomal recessive disease
MONDO:0014817 nephrotic syndrome, type 12 MONDO:0006025 DOID:0080387 DOID:0050737 autosomal recessive disease
MONDO:0014818 nephrotic syndrome, type 13 MONDO:0006025 DOID:0080381 DOID:0050737 autosomal recessive disease
+MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MONDO:0019502 DOID:0060935 DOID:0060308 autosomal recessive non-syndromic intellectual disability
MONDO:0014827 autosomal recessive spastic paraplegia type 76 MONDO:0006025 DOID:0110821 DOID:0050737 autosomal recessive disease
MONDO:0014830 platelet-type bleeding disorder 20 MONDO:0000426 DOID:0111055 DOID:0050736 autosomal dominant disease
MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC MONDO:0000426 DOID:0110180 DOID:0050736 autosomal dominant disease
@@ -3210,6 +3235,7 @@ MONDO:0014841 trichothiodystrophy 6, nonphotosensitive MONDO:0006025 DOID:011187
MONDO:0014843 premature ovarian failure 11 MONDO:0000426 DOID:0080868 DOID:0050736 autosomal dominant disease
MONDO:0014843 premature ovarian failure 11 MONDO:0006025 DOID:0080869 DOID:0050737 autosomal recessive disease
MONDO:0014847 spermatogenic failure 15 MONDO:0006025 DOID:0070172 DOID:0050737 autosomal recessive disease
+MONDO:0014855 intellectual disability, autosomal dominant 42 MONDO:0015802 DOID:0070072 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0006025 DOID:0111471 DOID:0050737 autosomal recessive disease
MONDO:0014859 developmental and epileptic encephalopathy, 37 MONDO:0006025 DOID:0080435 DOID:0050737 autosomal recessive disease
MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 MONDO:0006025 DOID:0081361 DOID:0050737 autosomal recessive disease
@@ -3241,11 +3267,15 @@ MONDO:0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood
MONDO:0014942 developmental and epileptic encephalopathy, 45 MONDO:0000426 DOID:0080428 DOID:0050736 autosomal dominant disease
MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MONDO:0006025 DOID:0080337 DOID:0050737 autosomal recessive disease
MONDO:0014945 myopathy, distal, with rimmed vacuoles MONDO:0000426 DOID:0081363 DOID:0050736 autosomal dominant disease
+MONDO:0014946 Sifrim-Hitz-Weiss syndrome MONDO:0015802 DOID:0070529 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0014947 developmental and epileptic encephalopathy, 46 MONDO:0000426 DOID:0080456 DOID:0050736 autosomal dominant disease
MONDO:0014949 developmental and epileptic encephalopathy, 47 MONDO:0000426 DOID:0080425 DOID:0050736 autosomal dominant disease
MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 MONDO:0019349 DOID:0112104 DOID:14748 Sotos syndrome
MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0002254 DOID:0081008 DOID:225 syndromic disease
MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 MONDO:0000426 DOID:0080987 DOID:0050736 autosomal dominant disease
+MONDO:0014958 Harel-Yoon syndrome MONDO:0000426 DOID:0081395 DOID:0050736 autosomal dominant disease
+MONDO:0014958 Harel-Yoon syndrome MONDO:0002254 DOID:0081395 DOID:225 syndromic disease
+MONDO:0014958 Harel-Yoon syndrome MONDO:0006025 DOID:0081395 DOID:0050737 autosomal recessive disease
MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant MONDO:0000426 DOID:0080130 DOID:0050736 autosomal dominant disease
MONDO:0014961 spermatogenic failure 16 MONDO:0006025 DOID:0070184 DOID:0050737 autosomal recessive disease
MONDO:0014961 spermatogenic failure 16 MONDO:0035153 DOID:0070184 DOID:0112311 male infertility due to acephalic spermatozoa
@@ -3262,6 +3292,7 @@ MONDO:0014992 lissencephaly 8 MONDO:0006025 DOID:0112233 DOID:0050737 autosomal
MONDO:0014993 myofibrillar myopathy 8 MONDO:0006025 DOID:0080308 DOID:0050737 autosomal recessive disease
MONDO:0015000 developmental and epileptic encephalopathy, 48 MONDO:0006025 DOID:0080448 DOID:0050737 autosomal recessive disease
MONDO:0015002 developmental and epileptic encephalopathy, 49 MONDO:0006025 DOID:0080441 DOID:0050737 autosomal recessive disease
+MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0006025 DOID:0081419 DOID:0050737 autosomal recessive disease
MONDO:0015008 amelogenesis imperfecta, type 1J MONDO:0006025 DOID:0080953 DOID:0050737 autosomal recessive disease
MONDO:0015011 optic atrophy 11 MONDO:0006025 DOID:0111436 DOID:0050737 autosomal recessive disease
MONDO:0015013 retinitis pigmentosa 77 MONDO:0006025 DOID:0080350 DOID:0050737 autosomal recessive disease
@@ -3342,6 +3373,7 @@ MONDO:0016566 loiasis MONDO:0005093 DOID:13523 DOID:37 skin disorder
MONDO:0016566 loiasis MONDO:0005328 DOID:13523 DOID:5614 eye disorder
MONDO:0016575 primary ciliary dyskinesia MONDO:0016575 DOID:0050144 DOID:9562 primary ciliary dyskinesia
MONDO:0016584 mandibuloacral dysplasia MONDO:0005497 DOID:0081127 DOID:0080006 bone development disease
+MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0019502 DOID:0070431 DOID:0060308 autosomal recessive non-syndromic intellectual disability
MONDO:0016612 X-linked cerebellar ataxia MONDO:0016612 DOID:0111828 DOID:0050953 X-linked cerebellar ataxia
MONDO:0016642 meningioma MONDO:0002714 DOID:3565 DOID:3620 central nervous system cancer
MONDO:0016643 frontonasal dysplasia MONDO:0002254 DOID:0081044 DOID:225 syndromic disease
@@ -3401,6 +3433,7 @@ MONDO:0018071 trisomy 18 MONDO:0000762 DOID:1085 DOID:0060429 syndrome caused by
MONDO:0018088 familial Mediterranean fever MONDO:0000429 DOID:2987 DOID:0050739 autosomal genetic disease
MONDO:0018088 familial Mediterranean fever MONDO:0007179 DOID:2987 DOID:417 autoimmune disease
MONDO:0018106 hereditary xanthinuria MONDO:0006025 DOID:0060236 DOID:0050737 autosomal recessive disease
+MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0006025 DOID:0070490 DOID:0050737 autosomal recessive disease
MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0002350 DOID:0080388 DOID:2590 familial nephrotic syndrome
MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0006025 DOID:0080388 DOID:0050737 autosomal recessive disease
MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0009054 DOID:0070134 DOID:0070141 autosomal recessive cutis laxa type 2, classic type
@@ -3437,6 +3470,7 @@ MONDO:0018589 AApoAIV amyloidosis MONDO:0005240 DOID:0080927 DOID:557 kidney dis
MONDO:0018590 ABeta2M amyloidosis MONDO:0005240 DOID:0080928 DOID:557 kidney disorder
MONDO:0018613 AH amyloidosis MONDO:0005240 DOID:0080934 DOID:557 kidney disorder
MONDO:0018637 familial chylomicronemia syndrome MONDO:0001336 DOID:0111417 DOID:1168 familial hyperlipidemia
+MONDO:0018696 corticobasal syndrome MONDO:0017276 DOID:0081392 DOID:9255 frontotemporal dementia
MONDO:0018746 mucous membrane pemphigoid MONDO:0850301 DOID:11656 DOID:0080841 pemphigoid
MONDO:0018756 euthyroid Graves orbitopathy MONDO:0000587 DOID:0081120 DOID:0060030 autoimmune disease of ear, nose and throat
MONDO:0018760 DeSanto-Shinawi syndrome MONDO:0000426 DOID:0081126 DOID:0050736 autosomal dominant disease
@@ -3448,11 +3482,18 @@ MONDO:0018770 Jeune syndrome MONDO:0005497 DOID:0050592 DOID:0080006 bone develo
MONDO:0018772 Joubert syndrome MONDO:0005560 DOID:0050777 DOID:936 brain disorder
MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0000425 DOID:0111862 DOID:0050735 X-linked disease
MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0005372 DOID:0111862 DOID:12336 male infertility
+MONDO:0018808 Caroli syndrome MONDO:0002405 DOID:0081394 DOID:272 hepatic vascular disorder
+MONDO:0018808 Caroli syndrome MONDO:0002887 DOID:0081394 DOID:4138 bile duct disorder
+MONDO:0018808 Caroli syndrome MONDO:0004634 DOID:0081394 DOID:866 vein disorder
+MONDO:0018808 Caroli syndrome MONDO:0006025 DOID:0081394 DOID:0050737 autosomal recessive disease
+MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0002254 DOID:0081386 DOID:225 syndromic disease
+MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0006025 DOID:0081386 DOID:0050737 autosomal recessive disease
MONDO:0018830 Kimura disease MONDO:0005093 DOID:7365 DOID:37 skin disorder
MONDO:0018849 dentinogenesis imperfecta MONDO:0000426 DOID:4154 DOID:0050736 autosomal dominant disease
MONDO:0018855 keratosis pilaris atrophicans MONDO:0006025 DOID:0080751 DOID:0050737 autosomal recessive disease
MONDO:0018855 keratosis pilaris atrophicans MONDO:0019269 DOID:0080751 DOID:1697 ichthyosis
MONDO:0018870 arterial calcification of infancy MONDO:0000473 DOID:0050644 DOID:0050828 arterial disorder
+MONDO:0018875 Li-Fraumeni syndrome MONDO:0018875 DOID:0111503 DOID:3012 Li-Fraumeni syndrome
MONDO:0018881 myelodysplastic syndrome MONDO:0005374 DOID:0050908 DOID:4960 bone marrow neoplasm
MONDO:0018910 oculocutaneous albinism MONDO:0002254 DOID:0050632 DOID:225 syndromic disease
MONDO:0018910 oculocutaneous albinism MONDO:0006025 DOID:0050632 DOID:0050737 autosomal recessive disease
@@ -3504,7 +3545,9 @@ MONDO:0019338 sarcoidosis MONDO:0002459 DOID:11335 DOID:2916 type IV hypersensit
MONDO:0019344 antisynthetase syndrome MONDO:0007179 DOID:0080744 DOID:417 autoimmune disease
MONDO:0019345 shigellosis MONDO:0003409 DOID:12385 DOID:5353 colonic disorder
MONDO:0019347 peeling skin syndrome MONDO:0006025 DOID:0060283 DOID:0050737 autosomal recessive disease
+MONDO:0019349 Sotos syndrome MONDO:0000426 DOID:0112103 DOID:0050736 autosomal dominant disease
MONDO:0019349 Sotos syndrome MONDO:0000429 DOID:14748 DOID:0050739 autosomal genetic disease
+MONDO:0019349 Sotos syndrome MONDO:0019349 DOID:0112103 DOID:14748 Sotos syndrome
MONDO:0019355 adult-onset Still disease MONDO:0008383 DOID:14256 DOID:7148 rheumatoid arthritis
MONDO:0019369 complex regional pain syndrome MONDO:0001292 DOID:3223 DOID:11465 autonomic nervous system disorder
MONDO:0019392 syringocystadenoma papilliferum MONDO:0003686 DOID:5445 DOID:5876 apocrine sweat gland neoplasm
@@ -3519,9 +3562,9 @@ MONDO:0019462 splenic marginal zone lymphoma MONDO:0005966 DOID:0050750 DOID:672
MONDO:0019464 heavy chain disease MONDO:0002459 DOID:0060125 DOID:2916 type IV hypersensitivity disease
MONDO:0019466 lymphomatoid granulomatosis MONDO:0016537 DOID:0081307 DOID:0060704 lymphoproliferative syndrome
MONDO:0019467 CD4+/CD56+ hematodermic neoplasm MONDO:0010643 DOID:0081076 DOID:12603 acute leukemia
-MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0003540 DOID:0050751 DOID:5603 acute T cell leukemia
+MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0004963 DOID:0050751 DOID:5603 T-cell acute lymphoblastic leukemia
MONDO:0019470 aggressive NK-cell leukemia MONDO:0004992 DOID:1035 DOID:0050687 cancer
-MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0003540 DOID:0050523 DOID:5603 acute T cell leukemia
+MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0004963 DOID:0050523 DOID:5603 T-cell acute lymphoblastic leukemia
MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:0000430 DOID:0080797 DOID:0050743 mature T-cell and NK-cell non-Hodgkin lymphoma
MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:0001128 DOID:0080797 DOID:10811 nasal cavity cancer
MONDO:0019474 hepatosplenic T-cell lymphoma MONDO:0000430 DOID:0081049 DOID:0050743 mature T-cell and NK-cell non-Hodgkin lymphoma
@@ -3535,6 +3578,7 @@ MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type MONDO:0006025 DOID:0
MONDO:0019701 chondrodysplasia punctata MONDO:0002254 DOID:2581 DOID:225 syndromic disease
MONDO:0019735 polymyalgia rheumatica MONDO:0000589 DOID:853 DOID:0060032 autoimmune disorder of musculoskeletal system
MONDO:0019772 blepharospasm-oromandibular dystonia syndrome MONDO:0000486 DOID:3982 DOID:0050845 craniofacial dystonia
+MONDO:0019806 primary progressive aphasia MONDO:0017276 DOID:0081388 DOID:9255 frontotemporal dementia
MONDO:0019917 maternal uniparental disomy of chromosome 20 MONDO:0002254 DOID:0111714 DOID:225 syndromic disease
MONDO:0019947 rippling muscle disease 2 MONDO:0000426 DOID:0060255 DOID:0050736 autosomal dominant disease
MONDO:0019948 reducing body myopathy MONDO:0020604 DOID:0080090 DOID:0080009 X-linked dominant disease
@@ -3545,6 +3589,7 @@ MONDO:0020135 pontocerebellar hypoplasia MONDO:0005559 DOID:0060264 DOID:1289 ne
MONDO:0020143 cerebral lipidosis with dementia MONDO:0022687 DOID:10742 DOID:1443 cerebellar degeneration
MONDO:0020291 hypoplastic right heart syndrome MONDO:0005453 DOID:0070315 DOID:1682 congenital heart disease
MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0000426 DOID:0060681 DOID:0050736 autosomal dominant disease
+MONDO:0020310 familial focal epilepsy with variable foci MONDO:0000426 DOID:0081420 DOID:0050736 autosomal dominant disease
MONDO:0020322 acute biphenotypic leukemia MONDO:0015760 DOID:9953 DOID:0081312 T-cell non-Hodgkin lymphoma
MONDO:0020367 juvenile open angle glaucoma MONDO:0000426 DOID:1068 DOID:0050736 autosomal dominant disease
MONDO:0020370 Cogan-Reese syndrome MONDO:0005328 DOID:0060217 DOID:5614 eye disorder
@@ -3573,6 +3618,7 @@ MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0020605 DOID:0060063 DOID:00
MONDO:0020723 vitamin D-dependent rickets, type 1A MONDO:0006025 DOID:0080886 DOID:0050737 autosomal recessive disease
MONDO:0020727 combined oxidative phosphorylation deficiency 22 MONDO:0006025 DOID:0111498 DOID:0050737 autosomal recessive disease
MONDO:0020729 autosomal recessive agammaglobulinemia 1 MONDO:0006025 DOID:0081136 DOID:0050737 autosomal recessive disease
+MONDO:0020730 carpal tunnel syndrome 1 MONDO:0000426 DOID:0070466 DOID:0050736 autosomal dominant disease
MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures MONDO:0000426 DOID:0111434 DOID:0050736 autosomal dominant disease
MONDO:0020738 multiple benign circumferential skin creases on limbs 1 MONDO:0000426 DOID:0112242 DOID:0050736 autosomal dominant disease
MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 MONDO:0020605 DOID:0081078 DOID:0080012 X-linked recessive disease
@@ -3587,6 +3633,8 @@ MONDO:0020852 spermatogenic failure 31 MONDO:0006025 DOID:0111922 DOID:0050737 a
MONDO:0020852 spermatogenic failure 31 MONDO:0035153 DOID:0111922 DOID:0112311 male infertility due to acephalic spermatozoa
MONDO:0020855 spermatogenic failure 32 MONDO:0000426 DOID:0111925 DOID:0050736 autosomal dominant disease
MONDO:0020857 ovarian dysgenesis 7 MONDO:0006025 DOID:0080499 DOID:0050737 autosomal recessive disease
+MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 MONDO:0006025 DOID:0070463 DOID:0050737 autosomal recessive disease
+MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 MONDO:0014471 DOID:0070463 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency
MONDO:0021002 syndactyly MONDO:0001411 DOID:11193 DOID:11971 synostosis
MONDO:0021004 brachydactyly MONDO:0018234 DOID:0050581 DOID:1934 dysostosis
MONDO:0021013 trichothiodystrophy 4, nonphotosensitive MONDO:0006025 DOID:0050528 DOID:0050737 autosomal recessive disease
@@ -3631,6 +3679,7 @@ MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:0006025 DO
MONDO:0024463 ovarian dysgenesis 1 MONDO:0006025 DOID:0080493 DOID:0050737 autosomal recessive disease
MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0000627 DOID:916 DOID:0060089 benign endocrine neoplasm
MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0859689 DOID:916 DOID:3117 hepatobiliary benign neoplasm
+MONDO:0024507 aniridia 1 MONDO:0000426 DOID:0070532 DOID:0050736 autosomal dominant disease
MONDO:0024508 epilepsy, hot water, 1 MONDO:0000426 DOID:0081106 DOID:0050736 autosomal dominant disease
MONDO:0024523 aortic valve disease 1 MONDO:0000426 DOID:0080333 DOID:0050736 autosomal dominant disease
MONDO:0024525 Fanconi renotubular syndrome 1 MONDO:0000426 DOID:0080757 DOID:0050736 autosomal dominant disease
@@ -3641,6 +3690,7 @@ MONDO:0024550 frontometaphyseal dysplasia 1 MONDO:0020605 DOID:0111786 DOID:0080
MONDO:0024552 linear skin defects with multiple congenital anomalies 1 MONDO:0020604 DOID:0111808 DOID:0080009 X-linked dominant disease
MONDO:0024554 D-2-hydroxyglutaric aciduria 1 MONDO:0006025 DOID:0111351 DOID:0050737 autosomal recessive disease
MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 MONDO:0006025 DOID:0080316 DOID:0050737 autosomal recessive disease
+MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0015244 DOID:0081384 DOID:0050950 autosomal recessive cerebellar ataxia
MONDO:0024568 infantile liver failure syndrome 1 MONDO:0006025 DOID:0080717 DOID:0050737 autosomal recessive disease
MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability MONDO:0006025 DOID:0080197 DOID:0050737 autosomal recessive disease
MONDO:0024677 pancreatic insulinoma MONDO:0002809 DOID:3892 DOID:3918 pancreatic cystadenoma
@@ -3676,6 +3726,8 @@ MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 MONDO:0006025
MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 MONDO:0100062 DOID:0070382 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0029147 spermatogenic failure 33 MONDO:0006025 DOID:0111915 DOID:0050737 autosomal recessive disease
MONDO:0029148 spermatogenic failure 34 MONDO:0006025 DOID:0111911 DOID:0050737 autosomal recessive disease
+MONDO:0030005 epilepsy, early-onset, with or without developmental delay MONDO:0000426 DOID:0070471 DOID:0050736 autosomal dominant disease
+MONDO:0030005 epilepsy, early-onset, with or without developmental delay MONDO:0005027 DOID:0070471 DOID:1826 epilepsy
MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0006025 DOID:0112117 DOID:0050737 autosomal recessive disease
MONDO:0030007 combined oxidative phosphorylation deficiency 41 MONDO:0006025 DOID:0112119 DOID:0050737 autosomal recessive disease
MONDO:0030008 combined oxidative phosphorylation deficiency 42 MONDO:0006025 DOID:0112118 DOID:0050737 autosomal recessive disease
@@ -3684,12 +3736,14 @@ MONDO:0030013 immunodeficiency 66 MONDO:0003778 DOID:0111998 DOID:612 inborn err
MONDO:0030013 immunodeficiency 66 MONDO:0006025 DOID:0111998 DOID:0050737 autosomal recessive disease
MONDO:0030017 combined oxidative phosphorylation deficiency 43 MONDO:0006025 DOID:0112116 DOID:0050737 autosomal recessive disease
MONDO:0030019 anauxetic dysplasia 3 MONDO:0006025 DOID:0080963 DOID:0050737 autosomal recessive disease
+MONDO:0030020 combined oxidative phosphorylation deficiency 44 MONDO:0006025 DOID:0070424 DOID:0050737 autosomal recessive disease
MONDO:0030026 retinal dystrophy with leukodystrophy MONDO:0006025 DOID:0080946 DOID:0050737 autosomal recessive disease
MONDO:0030026 retinal dystrophy with leukodystrophy MONDO:0019053 DOID:0080946 DOID:906 peroxisomal disease
MONDO:0030027 tremor, hereditary essential, 6 MONDO:0000426 DOID:0081295 DOID:0050736 autosomal dominant disease
MONDO:0030031 lissencephaly 10 MONDO:0000426 DOID:0112229 DOID:0050736 autosomal dominant disease
MONDO:0030049 46,xx sex reversal 5 MONDO:0000426 DOID:0080943 DOID:0050736 autosomal dominant disease
MONDO:0030049 46,xx sex reversal 5 MONDO:0100249 DOID:0080943 DOID:0111760 46,XX testicular disorder of sex development
+MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures MONDO:0015802 DOID:0081430 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0030054 developmental and epileptic encephalopathy, 86 MONDO:0006025 DOID:0112220 DOID:0050737 autosomal recessive disease
MONDO:0030056 Fanconi renotubular syndrome 5 MONDO:0006025 DOID:0080761 DOID:0050737 autosomal recessive disease
MONDO:0030059 developmental and epileptic encephalopathy, 87 MONDO:0000426 DOID:0112221 DOID:0050736 autosomal dominant disease
@@ -3699,6 +3753,7 @@ MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 MONDO:00060
MONDO:0030071 retinitis pigmentosa 89 MONDO:0000426 DOID:0112146 DOID:0050736 autosomal dominant disease
MONDO:0030071 retinitis pigmentosa 89 MONDO:0019200 DOID:0112146 DOID:10584 retinitis pigmentosa
MONDO:0030072 developmental and epileptic encephalopathy, 88 MONDO:0006025 DOID:0112222 DOID:0050737 autosomal recessive disease
+MONDO:0030073 Mitchell syndrome MONDO:0000426 DOID:0070516 DOID:0050736 autosomal dominant disease
MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0006025 DOID:0112303 DOID:0050737 autosomal recessive disease
MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0016763 DOID:0112303 DOID:0112295 spondylometaphyseal dysplasia
MONDO:0030134 oculopharyngodistal myopathy 2 MONDO:0000426 DOID:0081298 DOID:0050736 autosomal dominant disease
@@ -3712,7 +3767,10 @@ MONDO:0030263 leukodystrophy, hypomyelinating, 21 MONDO:0006025 DOID:0070407 DOI
MONDO:0030268 developmental and epileptic encephalopathy 6B MONDO:0000426 DOID:0070379 DOID:0050736 autosomal dominant disease
MONDO:0030300 cardiomyopathy, dilated, 2D MONDO:0006025 DOID:0081160 DOID:0050737 autosomal recessive disease
MONDO:0030307 spermatogenic failure 55 MONDO:0006025 DOID:0112337 DOID:0050737 autosomal recessive disease
+MONDO:0030311 combined oxidative phosphorylation deficiency 52 MONDO:0006025 DOID:0070425 DOID:0050737 autosomal recessive disease
+MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) MONDO:0006025 DOID:0070447 DOID:0050737 autosomal recessive disease
MONDO:0030366 cardiomyopathy, dilated, 2E MONDO:0006025 DOID:0081161 DOID:0050737 autosomal recessive disease
+MONDO:0030378 combined oxidative phosphorylation deficiency 53 MONDO:0006025 DOID:0070426 DOID:0050737 autosomal recessive disease
MONDO:0030430 spermatogenic failure 56 MONDO:0006025 DOID:0112336 DOID:0050737 autosomal recessive disease
MONDO:0030438 pontocerebellar hypoplasia, type 16 MONDO:0006025 DOID:0112333 DOID:0050737 autosomal recessive disease
MONDO:0030439 spermatogenic failure 57 MONDO:0006025 DOID:0112338 DOID:0050737 autosomal recessive disease
@@ -3732,12 +3790,14 @@ MONDO:0030519 agammaglobulinemia 9, autosomal recessive MONDO:0006025 DOID:00811
MONDO:0030522 spermatogenic failure 64 MONDO:0006025 DOID:0112353 DOID:0050737 autosomal recessive disease
MONDO:0030529 agammaglobulinemia 10, autosomal dominant MONDO:0000426 DOID:0081142 DOID:0050736 autosomal dominant disease
MONDO:0030531 spermatogenic failure 65 MONDO:0006025 DOID:0112354 DOID:0050737 autosomal recessive disease
+MONDO:0030543 combined oxidative phosphorylation deficiency 54 MONDO:0006025 DOID:0070427 DOID:0050737 autosomal recessive disease
MONDO:0030553 acromesomelic dysplasia 4 MONDO:0006025 DOID:0081238 DOID:0050737 autosomal recessive disease
MONDO:0030604 cystic partially differentiated nephroblastoma MONDO:0850150 DOID:7571 DOID:0080616 kidney cortex disease
MONDO:0030639 Teebi hypertelorism syndrome MONDO:0002254 DOID:0081073 DOID:225 syndromic disease
MONDO:0030673 spastic paraplegia 86, autosomal recessive MONDO:0006025 DOID:0112342 DOID:0050737 autosomal recessive disease
MONDO:0030680 cardiomyopathy, dilated, 2F MONDO:0006025 DOID:0081162 DOID:0050737 autosomal recessive disease
MONDO:0030695 developmental and epileptic encephalopathy 100 MONDO:0000426 DOID:0070386 DOID:0050736 autosomal dominant disease
+MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) MONDO:0006025 DOID:0070451 DOID:0050737 autosomal recessive disease
MONDO:0030712 oculopharyngodistal myopathy 4 MONDO:0000426 DOID:0081300 DOID:0050736 autosomal dominant disease
MONDO:0030727 developmental and epileptic encephalopathy 101 MONDO:0006025 DOID:0070387 DOID:0050737 autosomal recessive disease
MONDO:0030844 spermatogenic failure 47 MONDO:0006025 DOID:0112175 DOID:0050737 autosomal recessive disease
@@ -3751,6 +3811,8 @@ MONDO:0030869 spermatogenic failures 50 MONDO:0006025 DOID:0112272 DOID:0050737
MONDO:0030871 vertebral hypersegmentation and orofacial anomalies MONDO:0000426 DOID:0070418 DOID:0050736 autosomal dominant disease
MONDO:0030871 vertebral hypersegmentation and orofacial anomalies MONDO:0002254 DOID:0070418 DOID:225 syndromic disease
MONDO:0030881 developmental and epileptic encephalopathy 102 MONDO:0006025 DOID:0070388 DOID:0050737 autosomal recessive disease
+MONDO:0030883 carpal tunnel syndrome 2 MONDO:0000426 DOID:0070467 DOID:0050736 autosomal dominant disease
+MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia MONDO:0000426 DOID:0081380 DOID:0050736 autosomal dominant disease
MONDO:0030887 cardiomyopathy, dilated, 2G MONDO:0006025 DOID:0081163 DOID:0050737 autosomal recessive disease
MONDO:0030894 AMED syndrome, digenic MONDO:0002254 DOID:0080952 DOID:225 syndromic disease
MONDO:0030894 AMED syndrome, digenic MONDO:0006025 DOID:0080952 DOID:0050737 autosomal recessive disease
@@ -3771,14 +3833,19 @@ MONDO:0030985 premature ovarian failure 19 MONDO:0006025 DOID:0112278 DOID:00507
MONDO:0030989 spermatogenic failure 53 MONDO:0006025 DOID:0112279 DOID:0050737 autosomal recessive disease
MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0002254 DOID:0112290 DOID:225 syndromic disease
MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0006025 DOID:0112290 DOID:0050737 autosomal recessive disease
+MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0006025 DOID:0070456 DOID:0050737 autosomal recessive disease
MONDO:0031021 developmental and epileptic encephalopathy 104 MONDO:0000426 DOID:0070390 DOID:0050736 autosomal dominant disease
MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism MONDO:0006025 DOID:0070391 DOID:0050737 autosomal recessive disease
MONDO:0031043 lymphatic malformation 12 MONDO:0000426 DOID:0081030 DOID:0050736 autosomal dominant disease
MONDO:0031052 developmental and epileptic encephalopathy 106 MONDO:0006025 DOID:0070392 DOID:0050737 autosomal recessive disease
MONDO:0031055 developmental and epileptic encephalopathy 107 MONDO:0006025 DOID:0070393 DOID:0050737 autosomal recessive disease
+MONDO:0031166 macular dystrophy, retinal MONDO:0000426 DOID:0070438 DOID:0050736 autosomal dominant disease
+MONDO:0031166 macular dystrophy, retinal MONDO:0003004 DOID:0070438 DOID:4448 macular degeneration
MONDO:0031213 restrictive dermopathy MONDO:0005093 DOID:0060762 DOID:37 skin disorder
MONDO:0031219 mismatch repair cancer syndrome MONDO:0002254 DOID:0112182 DOID:225 syndromic disease
MONDO:0031219 mismatch repair cancer syndrome MONDO:0006025 DOID:0112182 DOID:0050737 autosomal recessive disease
+MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:0004736 DOID:0070476 DOID:9252 inborn disorder of amino acid metabolism
+MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:0006025 DOID:0070476 DOID:0050737 autosomal recessive disease
MONDO:0032577 retinitis pigmentosa 83 MONDO:0000426 DOID:0112140 DOID:0050736 autosomal dominant disease
MONDO:0032580 nephrotic syndrome, type 17 MONDO:0006025 DOID:0080392 DOID:0050737 autosomal recessive disease
MONDO:0032581 nephrotic syndrome, type 18 MONDO:0006025 DOID:0080393 DOID:0050737 autosomal recessive disease
@@ -3858,6 +3925,7 @@ MONDO:0032739 spermatogenic failure 36 MONDO:0000426 DOID:0111921 DOID:0050736 a
MONDO:0032744 spermatogenic failure 37 MONDO:0006025 DOID:0111927 DOID:0050737 autosomal recessive disease
MONDO:0032748 spermatogenic failure 38 MONDO:0006025 DOID:0111919 DOID:0050737 autosomal recessive disease
MONDO:0032752 developmental and epileptic encephalopathy, 75 MONDO:0006025 DOID:0112211 DOID:0050737 autosomal recessive disease
+MONDO:0032756 long qt syndrome 8 MONDO:0000426 DOID:0110649 DOID:0050736 autosomal dominant disease
MONDO:0032757 ciliary dyskinesia, primary, 41 MONDO:0006025 DOID:0111858 DOID:0050737 autosomal recessive disease
MONDO:0032763 immunodeficiency 62 MONDO:0002211 DOID:0111991 DOID:2115 B cell deficiency
MONDO:0032763 immunodeficiency 62 MONDO:0006025 DOID:0111991 DOID:0050737 autosomal recessive disease
@@ -3867,8 +3935,10 @@ MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity MOND
MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity MONDO:0850200 DOID:0111997 DOID:0080710 T cell and NK cell immunodeficiency
MONDO:0032783 aortic valve disease 3 MONDO:0000426 DOID:0080977 DOID:0050736 autosomal dominant disease
MONDO:0032786 Noonan syndrome 11 MONDO:0000426 DOID:0112169 DOID:0050736 autosomal dominant disease
+MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis MONDO:0000426 DOID:0081398 DOID:0050736 autosomal dominant disease
MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:0006025 DOID:0080596 DOID:0050737 autosomal recessive disease
MONDO:0032797 myopathy, congenital, with tremor MONDO:0000426 DOID:0081348 DOID:0050736 autosomal dominant disease
+MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:0006025 DOID:0070446 DOID:0050737 autosomal recessive disease
MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 MONDO:0000426 DOID:0080766 DOID:0050736 autosomal dominant disease
MONDO:0032803 immunodeficiency 64 MONDO:0006025 DOID:0111980 DOID:0050737 autosomal recessive disease
MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type MONDO:0006025 DOID:0111651 DOID:0050737 autosomal recessive disease
@@ -3876,6 +3946,7 @@ MONDO:0032806 trichothiodystrophy 7, nonphotosensitive MONDO:0006025 DOID:011187
MONDO:0032808 developmental and epileptic encephalopathy, 77 MONDO:0006025 DOID:0112213 DOID:0050737 autosomal recessive disease
MONDO:0032812 developmental and epileptic encephalopathy, 78 MONDO:0000426 DOID:0112214 DOID:0050736 autosomal dominant disease
MONDO:0032813 developmental and epileptic encephalopathy, 79 MONDO:0000426 DOID:0112215 DOID:0050736 autosomal dominant disease
+MONDO:0032815 mitochondrial DNA depletion syndrome 17 MONDO:0006025 DOID:0070448 DOID:0050737 autosomal recessive disease
MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies MONDO:0002254 DOID:0070346 DOID:225 syndromic disease
MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 MONDO:0006025 DOID:0111836 DOID:0050737 autosomal recessive disease
MONDO:0032821 myopathy, congenital, progressive, with scoliosis MONDO:0006025 DOID:0081351 DOID:0050737 autosomal recessive disease
@@ -3914,10 +3985,15 @@ MONDO:0032904 corneal dystrophy, Meesmann, 2 MONDO:0000426 DOID:0080671 DOID:005
MONDO:0032906 spastic paraplegia 82, autosomal recessive MONDO:0006025 DOID:0112343 DOID:0050737 autosomal recessive disease
MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 MONDO:0006025 DOID:0112091 DOID:0050737 autosomal recessive disease
MONDO:0032914 ciliary dyskinesia, primary, 44 MONDO:0006025 DOID:0111851 DOID:0050737 autosomal recessive disease
+MONDO:0032915 long QT syndrome 16 MONDO:0000426 DOID:0070533 DOID:0050736 autosomal dominant disease
MONDO:0032918 developmental and epileptic encephalopathy, 84 MONDO:0006025 DOID:0112219 DOID:0050737 autosomal recessive disease
MONDO:0032924 ciliary dyskinesia, primary, 45 MONDO:0006025 DOID:0111857 DOID:0050737 autosomal recessive disease
MONDO:0032926 sandestig-stefanova syndrome MONDO:0002254 DOID:0081272 DOID:225 syndromic disease
MONDO:0032926 sandestig-stefanova syndrome MONDO:0006025 DOID:0081272 DOID:0050737 autosomal recessive disease
+MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0002254 DOID:0081396 DOID:225 syndromic disease
+MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0006025 DOID:0081396 DOID:0050737 autosomal recessive disease
+MONDO:0032932 mitochondrial DNA depletion syndrome 18 MONDO:0006025 DOID:0070449 DOID:0050737 autosomal recessive disease
+MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant MONDO:0000426 DOID:0070470 DOID:0050736 autosomal dominant disease
MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures MONDO:0006025 DOID:0081343 DOID:0050737 autosomal recessive disease
MONDO:0032937 myopathy, congenital proximal, with minicore lesions MONDO:0006025 DOID:0081344 DOID:0050737 autosomal recessive disease
MONDO:0032940 retinitis pigmentosa 88 MONDO:0006025 DOID:0112145 DOID:0050737 autosomal recessive disease
@@ -3963,6 +4039,7 @@ MONDO:0033541 immunodeficiency 69 MONDO:0006025 DOID:0112006 DOID:0050737 autoso
MONDO:0033541 immunodeficiency 69 MONDO:0850200 DOID:0112006 DOID:0080710 T cell and NK cell immunodeficiency
MONDO:0033542 immunodeficiency 70 MONDO:0000426 DOID:0112005 DOID:0050736 autosomal dominant disease
MONDO:0033542 immunodeficiency 70 MONDO:0015131 DOID:0112005 DOID:628 combined immunodeficiency
+MONDO:0033545 mitochondrial DNA depletion syndrome 19 MONDO:0006025 DOID:0070450 DOID:0050737 autosomal recessive disease
MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0006025 DOID:0081349 DOID:0050737 autosomal recessive disease
MONDO:0033549 optic atrophy 12 MONDO:0000426 DOID:0080840 DOID:0050736 autosomal dominant disease
MONDO:0033551 immunodeficiency 72 with autoinflammation MONDO:0006025 DOID:0112015 DOID:0050737 autosomal recessive disease
@@ -3980,11 +4057,43 @@ MONDO:0033570 combined oxidative phosphorylation deficiency 50 MONDO:0000732 DOI
MONDO:0033570 combined oxidative phosphorylation deficiency 50 MONDO:0006025 DOID:0112111 DOID:0050737 autosomal recessive disease
MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0006025 DOID:0112346 DOID:0050737 autosomal recessive disease
MONDO:0033615 coenzyme q10 deficiency, primary, 9 MONDO:0006025 DOID:0112138 DOID:0050737 autosomal recessive disease
+MONDO:0033618 Vissers-Bodmer syndrome MONDO:0000426 DOID:0081397 DOID:0050736 autosomal dominant disease
+MONDO:0033618 Vissers-Bodmer syndrome MONDO:0002254 DOID:0081397 DOID:225 syndromic disease
MONDO:0033620 myofibrillar myopathy 10 MONDO:0006025 DOID:0112108 DOID:0050737 autosomal recessive disease
MONDO:0033622 spermatogenic failure 44 MONDO:0006025 DOID:0112109 DOID:0050737 autosomal recessive disease
MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies MONDO:0015802 DOID:0070417 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0033631 combined oxidative phosphorylation deficiency 51 MONDO:0006025 DOID:0112137 DOID:0050737 autosomal recessive disease
+MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 MONDO:0006025 DOID:0070492 DOID:0050737 autosomal recessive disease
+MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 MONDO:0957524 DOID:0070492 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 MONDO:0006025 DOID:0070493 DOID:0050737 autosomal recessive disease
+MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 MONDO:0957524 DOID:0070493 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 MONDO:0006025 DOID:0070494 DOID:0050737 autosomal recessive disease
+MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 MONDO:0957524 DOID:0070494 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 MONDO:0006025 DOID:0070495 DOID:0050737 autosomal recessive disease
+MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 MONDO:0957524 DOID:0070495 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 MONDO:0006025 DOID:0070496 DOID:0050737 autosomal recessive disease
+MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 MONDO:0957524 DOID:0070496 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
MONDO:0033643 inflammatory bowel disease 30 MONDO:0000426 DOID:0112154 DOID:0050736 autosomal dominant disease
+MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 MONDO:0006025 DOID:0070497 DOID:0050737 autosomal recessive disease
+MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 MONDO:0957524 DOID:0070497 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 MONDO:0006025 DOID:0070498 DOID:0050737 autosomal recessive disease
+MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 MONDO:0957524 DOID:0070498 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 MONDO:0006025 DOID:0070499 DOID:0050737 autosomal recessive disease
+MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 MONDO:0957524 DOID:0070499 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 MONDO:0006025 DOID:0070500 DOID:0050737 autosomal recessive disease
+MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 MONDO:0957524 DOID:0070500 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 MONDO:0006025 DOID:0070501 DOID:0050737 autosomal recessive disease
+MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 MONDO:0957524 DOID:0070501 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 MONDO:0006025 DOID:0070502 DOID:0050737 autosomal recessive disease
+MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 MONDO:0957524 DOID:0070502 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 MONDO:0006025 DOID:0070503 DOID:0050737 autosomal recessive disease
+MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 MONDO:0957524 DOID:0070503 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 MONDO:0006025 DOID:0070504 DOID:0050737 autosomal recessive disease
+MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 MONDO:0957524 DOID:0070504 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 MONDO:0006025 DOID:0070505 DOID:0050737 autosomal recessive disease
+MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 MONDO:0957524 DOID:0070505 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 MONDO:0006025 DOID:0070506 DOID:0050737 autosomal recessive disease
+MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 MONDO:0957524 DOID:0070506 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
MONDO:0033657 leukodystrophy, hypomyelinating, 20 MONDO:0006025 DOID:0112153 DOID:0050737 autosomal recessive disease
MONDO:0033669 Noonan syndrome 13 MONDO:0000426 DOID:0112161 DOID:0050736 autosomal dominant disease
MONDO:0033671 spermatogenic failure 45 MONDO:0006025 DOID:0112163 DOID:0050737 autosomal recessive disease
@@ -4003,6 +4112,7 @@ MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G MONDO:0000426
MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 MONDO:0000426 DOID:0080728 DOID:0050736 autosomal dominant disease
MONDO:0042486 polyposis syndrome, hereditary mixed, 1 MONDO:0000762 DOID:0111685 DOID:0060429 syndrome caused by partial chromosomal duplication
MONDO:0042499 benign familial neonatal-infantile seizures 1 MONDO:0000426 DOID:0081114 DOID:0050736 autosomal dominant disease
+MONDO:0044212 chronic idiopathic urticaria MONDO:0850230 DOID:0080749 DOID:0080747 chronic urticaria
MONDO:0044299 myasthenic syndrome, congenital, 22 MONDO:0006025 DOID:0080587 DOID:0050737 autosomal recessive disease
MONDO:0044300 familial adenomatous polyposis 4 MONDO:0006025 DOID:0080412 DOID:0050737 autosomal recessive disease
MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0000426 DOID:0112247 DOID:0050736 autosomal dominant disease
@@ -4012,12 +4122,15 @@ MONDO:0044309 Diamond-Blackfan anemia 16 MONDO:0000426 DOID:0111893 DOID:0050736
MONDO:0044310 Diamond-Blackfan anemia 17 MONDO:0000426 DOID:0111880 DOID:0050736 autosomal dominant disease
MONDO:0044311 brachycephaly, trichomegaly, and developmental delay MONDO:0000426 DOID:0070415 DOID:0050736 autosomal dominant disease
MONDO:0044311 brachycephaly, trichomegaly, and developmental delay MONDO:0002254 DOID:0070415 DOID:225 syndromic disease
+MONDO:0044315 craniosynostosis 7 MONDO:0015469 DOID:0060912 DOID:2340 craniosynostosis
MONDO:0044317 premature ovarian failure 13 MONDO:0006025 DOID:0080870 DOID:0050737 autosomal recessive disease
MONDO:0044326 developmental delay and seizures with or without movement abnormalities MONDO:0000508 DOID:0080473 DOID:0050888 syndromic intellectual disability
MONDO:0044329 osteogenesis imperfecta, type 18 MONDO:0006025 DOID:0111848 DOID:0050737 autosomal recessive disease
MONDO:0044330 hyperekplexia 4 MONDO:0006025 DOID:0080581 DOID:0050737 autosomal recessive disease
MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0006025 DOID:0081175 DOID:0050737 autosomal recessive disease
MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0019502 DOID:0070423 DOID:0060308 autosomal recessive non-syndromic intellectual disability
+MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0000426 DOID:0070474 DOID:0050736 autosomal dominant disease
+MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0005559 DOID:0070474 DOID:1289 neurodegenerative disease
MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0019586 DOID:0111738 DOID:0050566 X-linked nonsyndromic hearing loss
MONDO:0044721 severe combined immunodeficiency due to LAT deficiency MONDO:0001222 DOID:0111983 DOID:11200 congenital T-cell immunodeficiency
MONDO:0044721 severe combined immunodeficiency due to LAT deficiency MONDO:0006025 DOID:0111983 DOID:0050737 autosomal recessive disease
@@ -4031,6 +4144,7 @@ MONDO:0045055 glycogen-rich carcinoma MONDO:0004988 DOID:0081028 DOID:3458 breas
MONDO:0049222 intellectual disability, X-linked 107 MONDO:0020604 DOID:0112054 DOID:0080009 X-linked dominant disease
MONDO:0049223 osteogenesis imperfecta, type 19 MONDO:0020605 DOID:0111847 DOID:0080012 X-linked recessive disease
MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0006025 DOID:0070269 DOID:0050737 autosomal recessive disease
+MONDO:0054560 anauxetic dysplasia 1 MONDO:0006025 DOID:0050640 DOID:0050737 autosomal recessive disease
MONDO:0054561 anauxetic dysplasia 2 MONDO:0006025 DOID:0080962 DOID:0050737 autosomal recessive disease
MONDO:0054615 spermatogenic failure 18 MONDO:0006025 DOID:0070165 DOID:0050737 autosomal recessive disease
MONDO:0054654 combined oxidative phosphorylation deficiency 32 MONDO:0006025 DOID:0111492 DOID:0050737 autosomal recessive disease
@@ -4044,6 +4158,7 @@ MONDO:0054696 immunodeficiency 53 MONDO:0006025 DOID:0111992 DOID:0050737 autoso
MONDO:0054696 immunodeficiency 53 MONDO:0015131 DOID:0111992 DOID:628 combined immunodeficiency
MONDO:0054697 immunodeficiency 11b with atopic dermatitis MONDO:0000426 DOID:0111958 DOID:0050736 autosomal dominant disease
MONDO:0054697 immunodeficiency 11b with atopic dermatitis MONDO:0001222 DOID:0111958 DOID:11200 congenital T-cell immunodeficiency
+MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 MONDO:0000426 DOID:0060914 DOID:0050736 autosomal dominant disease
MONDO:0054701 Kleefstra syndrome 2 MONDO:0000426 DOID:0080598 DOID:0050736 autosomal dominant disease
MONDO:0054722 geleophysic dysplasia 3 MONDO:0000426 DOID:0111727 DOID:0050736 autosomal dominant disease
MONDO:0054723 spermatogenic failure 19 MONDO:0006025 DOID:0070170 DOID:0050737 autosomal recessive disease
@@ -4062,12 +4177,15 @@ MONDO:0054733 spermatogenic failure 29 MONDO:0006025 DOID:0111930 DOID:0050737 a
MONDO:0054736 mosaic variegated aneuploidy syndrome 3 MONDO:0006025 DOID:0080689 DOID:0050737 autosomal recessive disease
MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0006025 DOID:0111497 DOID:0050737 autosomal recessive disease
MONDO:0054742 combined oxidative phosphorylation deficiency 35 MONDO:0006025 DOID:0111464 DOID:0050737 autosomal recessive disease
+MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 MONDO:0000426 DOID:0081378 DOID:0050736 autosomal dominant disease
+MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 MONDO:0004976 DOID:0081378 DOID:332 amyotrophic lateral sclerosis
MONDO:0054781 combined oxidative phosphorylation deficiency 36 MONDO:0006025 DOID:0111482 DOID:0050737 autosomal recessive disease
MONDO:0054782 leukodystrophy, hypomyelinating, 15 MONDO:0006025 DOID:0070398 DOID:0050737 autosomal recessive disease
MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0006025 DOID:0070332 DOID:0050737 autosomal recessive disease
MONDO:0054791 leukodystrophy, hypomyelinating, 16 MONDO:0000426 DOID:0070405 DOID:0050736 autosomal dominant disease
MONDO:0054817 leukodystrophy, hypomyelinating, 17 MONDO:0006025 DOID:0070404 DOID:0050737 autosomal recessive disease
MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 MONDO:0000426 DOID:0080669 DOID:0050736 autosomal dominant disease
+MONDO:0054835 classic dopamine transporter deficiency syndrome MONDO:0006025 DOID:0070489 DOID:0050737 autosomal recessive disease
MONDO:0054843 ciliary dyskinesia, primary, 38 MONDO:0006025 DOID:0111852 DOID:0050737 autosomal recessive disease
MONDO:0054844 pontocerebellar hypoplasia, type 1D MONDO:0006025 DOID:0112323 DOID:0050737 autosomal recessive disease
MONDO:0054844 pontocerebellar hypoplasia, type 1D MONDO:0016396 DOID:0112323 DOID:0112322 pontocerebellar hypoplasia type 1
@@ -4088,9 +4206,13 @@ MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or
MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease MONDO:0006025 DOID:0112004 DOID:0050737 autosomal recessive disease
MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease MONDO:0015131 DOID:0112004 DOID:0111962 combined immunodeficiency
MONDO:0060592 Sweeney-Cox syndrome MONDO:0000426 DOID:0080538 DOID:0050736 autosomal dominant disease
+MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:0015802 DOID:0070514 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0006025 DOID:0111555 DOID:0050737 autosomal recessive disease
+MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MONDO:0019502 DOID:0060934 DOID:0060308 autosomal recessive non-syndromic intellectual disability
MONDO:0060650 Leber congenital amaurosis with early-onset deafness MONDO:0000426 DOID:0112240 DOID:0050736 autosomal dominant disease
MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities MONDO:0019502 DOID:0081263 DOID:0060308 autosomal recessive non-syndromic intellectual disability
+MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0000426 DOID:0081379 DOID:0050736 autosomal dominant disease
+MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0004976 DOID:0081379 DOID:332 amyotrophic lateral sclerosis
MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 MONDO:0009696 DOID:0111325 DOID:4890 juvenile myoclonic epilepsy
MONDO:0060732 tetraamelia syndrome 2 MONDO:0006025 DOID:0112193 DOID:0050737 autosomal recessive disease
MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth MONDO:0019502 DOID:0070421 DOID:0060308 autosomal recessive non-syndromic intellectual disability
@@ -4138,7 +4260,13 @@ MONDO:0100510 spondyloepimetaphyseal dysplasia MONDO:0000812 DOID:0080027 DOID:0
MONDO:0100522 hypotrichosis 4 MONDO:0000426 DOID:0110701 DOID:0050736 autosomal dominant disease
MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked MONDO:0020605 DOID:0070246 DOID:0080012 X-linked recessive disease
MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 MONDO:0000426 DOID:0090049 DOID:0050736 autosomal dominant disease
+MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0000429 DOID:0070487 DOID:0050739 autosomal genetic disease
MONDO:0700226 food allergy MONDO:0000777 DOID:3044 DOID:0060502 gastrointestinal allergy
+MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0000426 DOID:0081358 DOID:0050736 autosomal dominant disease
+MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 DOID:0081358 DOID:4603 epidermolytic ichthyosis
+MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 MONDO:0006025 DOID:0070491 DOID:0050737 autosomal recessive disease
+MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 MONDO:0957524 DOID:0070491 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
+MONDO:0700251 orofacial cleft 7 MONDO:0006025 DOID:0080400 DOID:0050737 autosomal recessive disease
MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0000426 DOID:0080698 DOID:0050736 autosomal dominant disease
MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0000426 DOID:0060731 DOID:0050736 autosomal dominant disease
MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0000426 DOID:0080523 DOID:0050736 autosomal dominant disease
@@ -4161,35 +4289,83 @@ MONDO:0850126 testicular sex cord-stromal benign neoplasm MONDO:0024988 DOID:008
MONDO:0850130 gastroesophageal adenocarcinoma MONDO:0850129 DOID:0080375 DOID:0080374 gastroesophageal cancer
MONDO:0850149 nephroma MONDO:0850150 DOID:0080615 DOID:0080616 kidney cortex disease
MONDO:0850284 extrinsic asthma MONDO:0005271 DOID:0080811 DOID:1205 allergic disease
+MONDO:0850302 intracranial meningioma MONDO:0001657 DOID:0060106 DOID:1319 brain cancer
+MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction MONDO:0019502 DOID:0070443 DOID:0060308 autosomal recessive non-syndromic intellectual disability
+MONDO:0859160 mitochondrial complex IV deficiency, nuclear type 22 MONDO:0006025 DOID:0070507 DOID:0050737 autosomal recessive disease
+MONDO:0859160 mitochondrial complex IV deficiency, nuclear type 22 MONDO:0957524 DOID:0070507 DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
MONDO:0859171 Luo-Schoch-Yamamoto syndrome MONDO:0015802 DOID:0070416 DOID:0060307 autosomal dominant non-syndromic intellectual disability
+MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum MONDO:0015802 DOID:0070469 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies MONDO:0015802 DOID:0081262 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0859208 Hengel-Maroofian-Schols syndrome MONDO:0002254 DOID:0070408 DOID:225 syndromic disease
MONDO:0859208 Hengel-Maroofian-Schols syndrome MONDO:0006025 DOID:0070408 DOID:0050737 autosomal recessive disease
+MONDO:0859209 Zaki syndrome MONDO:0002254 DOID:0070473 DOID:225 syndromic disease
+MONDO:0859209 Zaki syndrome MONDO:0006025 DOID:0070473 DOID:0050737 autosomal recessive disease
+MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia MONDO:0000426 DOID:0070445 DOID:0050736 autosomal dominant disease
+MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia MONDO:0003441 DOID:0070445 DOID:543 dystonic disorder
+MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome MONDO:0002254 DOID:0070468 DOID:225 syndromic disease
+MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome MONDO:0006025 DOID:0070468 DOID:0050737 autosomal recessive disease
MONDO:0859226 craniotubular dysplasia, Ikegawa type MONDO:0006025 DOID:0112340 DOID:0050737 autosomal recessive disease
MONDO:0859226 craniotubular dysplasia, Ikegawa type MONDO:0009031 DOID:0112340 DOID:0080032 craniodiaphyseal dysplasia
+MONDO:0859228 combined oxidative phosphorylation deficiency 55 MONDO:0000429 DOID:0070428 DOID:0050739 autosomal genetic disease
MONDO:0859234 agammaglobulinemia 8b, autosomal recessive MONDO:0006025 DOID:0081143 DOID:0050737 autosomal recessive disease
MONDO:0859235 auditory neuropathy, autosomal dominant 3 MONDO:0019587 DOID:0112373 DOID:0050564 autosomal dominant nonsyndromic hearing loss
MONDO:0859237 3-methylglutaconic aciduria, type VIIA MONDO:0000426 DOID:0081133 DOID:0050736 autosomal dominant disease
MONDO:0859237 3-methylglutaconic aciduria, type VIIA MONDO:0014561 DOID:0081133 DOID:0110003 3-methylglutaconic aciduria, type VIIB
MONDO:0859242 leukodystrophy, hypomyelinating, 24 MONDO:0000426 DOID:0070406 DOID:0050736 autosomal dominant disease
+MONDO:0859256 neurodevelopmental disorder with language delay and seizures MONDO:0019502 DOID:0070444 DOID:0060308 autosomal recessive non-syndromic intellectual disability
MONDO:0859280 developmental delay, hypotonia, and impaired language MONDO:0015802 DOID:0070420 DOID:0060307 autosomal dominant non-syndromic intellectual disability
+MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures MONDO:0015802 DOID:0070536 DOID:0060307 autosomal dominant non-syndromic intellectual disability
+MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties MONDO:0031632 DOID:0070479 DOID:0070476 developmental delay with short stature, dysmorphic facial features, and sparse hair
MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss MONDO:0019502 DOID:0081324 DOID:0060308 autosomal recessive non-syndromic intellectual disability
MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features MONDO:0000508 DOID:0081301 DOID:0050888 syndromic intellectual disability
MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia MONDO:0015802 DOID:0081275 DOID:0060307 autosomal dominant non-syndromic intellectual disability
+MONDO:0859309 spastic paraplegia 88, autosomal dominant MONDO:0000426 DOID:0070457 DOID:0050736 autosomal dominant disease
MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0000426 DOID:0070394 DOID:0050736 autosomal dominant disease
+MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0006025 DOID:0070429 DOID:0050737 autosomal recessive disease
MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0000426 DOID:0070378 DOID:0050736 autosomal dominant disease
MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0006025 DOID:0070395 DOID:0050737 autosomal recessive disease
MONDO:0859335 congenital myopathy 15 MONDO:0000426 DOID:0081347 DOID:0050736 autosomal dominant disease
+MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0006025 DOID:0070430 DOID:0050737 autosomal recessive disease
+MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:0006025 DOID:0070510 DOID:0050737 autosomal recessive disease
MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0006025 DOID:0081328 DOID:0050737 autosomal recessive disease
+MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0000426 DOID:0070455 DOID:0050736 autosomal dominant disease
MONDO:0859378 leukodystrophy, hypomyelinating, 25 MONDO:0000426 DOID:0070401 DOID:0050736 autosomal dominant disease
MONDO:0859514 congenital myopathy 18 MONDO:0000426 DOID:0081350 DOID:0050736 autosomal dominant disease
MONDO:0859514 congenital myopathy 18 MONDO:0006025 DOID:0081350 DOID:0050737 autosomal recessive disease
MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0006025 DOID:0081345 DOID:0050737 autosomal recessive disease
MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive MONDO:0006025 DOID:0081339 DOID:0050737 autosomal recessive disease
MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0006025 DOID:0070403 DOID:0050737 autosomal recessive disease
+MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 MONDO:0006025 DOID:0070485 DOID:0050737 autosomal recessive disease
+MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 MONDO:0009068 DOID:0070485 DOID:3762 cytochrome-c oxidase deficiency disease
MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0000426 DOID:0081340 DOID:0050736 autosomal dominant disease
+MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile MONDO:0000426 DOID:0081381 DOID:0050736 autosomal dominant disease
+MONDO:0957215 congenital myopathy 20 MONDO:0006025 DOID:0081352 DOID:0050737 autosomal recessive disease
+MONDO:0957221 spastic paraplegia 70, autosomal recessive MONDO:0006025 DOID:0070454 DOID:0050737 autosomal recessive disease
+MONDO:0957224 congenital myopathy 21 with early respiratory failure MONDO:0006025 DOID:0081353 DOID:0050737 autosomal recessive disease
+MONDO:0957247 congenital myopathy 22A, classic MONDO:0006025 DOID:0081354 DOID:0050737 autosomal recessive disease
+MONDO:0957248 developmental and epileptic encephalopathy 31B MONDO:0006025 DOID:0070376 DOID:0050737 autosomal recessive disease
+MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MONDO:0000426 DOID:0070461 DOID:0050736 autosomal dominant disease
+MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 MONDO:0006025 DOID:0070464 DOID:0050737 autosomal recessive disease
+MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0006025 DOID:0081355 DOID:0050737 autosomal recessive disease
+MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0006025 DOID:0070458 DOID:0050737 autosomal recessive disease
+MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0006025 DOID:0081374 DOID:0050737 autosomal recessive disease
+MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0000426 DOID:0081375 DOID:0050736 autosomal dominant disease
+MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0000426 DOID:0070459 DOID:0050736 autosomal dominant disease
+MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0000426 DOID:0070460 DOID:0050736 autosomal dominant disease
MONDO:0957317 hematuria, benign familial MONDO:0000426 DOID:0111365 DOID:0050736 autosomal dominant disease
MONDO:0957317 hematuria, benign familial MONDO:0002118 DOID:0111365 DOID:18 urinary system disorder
+MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities MONDO:0019502 DOID:0081387 DOID:0060308 autosomal recessive non-syndromic intellectual disability
+MONDO:0957497 disabling pansclerotic morphea of childhood MONDO:0019562 DOID:0081373 DOID:8472 localized scleroderma
+MONDO:0957538 amyotrophic lateral sclerosis 28 MONDO:0000426 DOID:0081382 DOID:0050736 autosomal dominant disease
+MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures MONDO:0000429 DOID:0070512 DOID:0050739 autosomal genetic disease
+MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures MONDO:0002254 DOID:0070512 DOID:225 syndromic disease
+MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development MONDO:0006025 DOID:0070486 DOID:0050737 autosomal recessive disease
+MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development MONDO:0017279 DOID:0070486 DOID:0060894 young-onset Parkinson disease
+MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities MONDO:0015802 DOID:0070513 DOID:0060307 autosomal dominant non-syndromic intellectual disability
+MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies MONDO:0015802 DOID:0060933 DOID:0060307 autosomal dominant non-syndromic intellectual disability
+MONDO:0958184 epidermolytic hyperkeratosis 2 MONDO:0007239 DOID:0081359 DOID:4603 epidermolytic ichthyosis
+MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay MONDO:0000426 DOID:0070472 DOID:0050736 autosomal dominant disease
+MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay MONDO:0005027 DOID:0070472 DOID:1826 epilepsy
MONDO:8000006 WHIM syndrome 1 MONDO:0000426 DOID:0060591 DOID:0050736 autosomal dominant disease
MONDO:8000006 WHIM syndrome 1 MONDO:0003778 DOID:0060591 DOID:612 inborn error of immunity
MONDO:8000008 Martsolf syndrome 1 MONDO:0006025 DOID:0111586 DOID:0050737 autosomal recessive disease
diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv
index ac6aa350..cc064f34 100644
--- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv
+++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv
@@ -4,6 +4,7 @@ MONDO:0000004 adrenocortical insufficiency MONDO:0002816 DOID:10493 DOID:3952 ad
MONDO:0000062 isolated microphthalmia MONDO:0021129 DOID:0080637 DOID:10629 microphthalmia
MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0006025 DOID:0090007 DOID:0050737 autosomal recessive disease
MONDO:0000136 keratosis follicularis spinulosa decalvans MONDO:0018855 DOID:0080753 DOID:0080751 keratosis pilaris atrophicans
+MONDO:0000158 developmental dysplasia of the hip MONDO:0005497 DOID:0060930 DOID:0080006 bone development disease
MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B MONDO:0018276 DOID:0112375 DOID:0112374 muscular dystrophy-dystroglycanopathy
MONDO:0000222 seminal vesicle acute gonorrhea MONDO:0001027 DOID:0050004 DOID:10400 gonococcal seminal vesiculitis
MONDO:0000225 human monocytic ehrlichiosis MONDO:0016003 DOID:0050026 DOID:10242 ehrlichiosis
@@ -30,6 +31,7 @@ MONDO:0000273 Kunjin virus infectous disease MONDO:0019376 DOID:0050174 DOID:236
MONDO:0000282 Whitewater Arroyo hemorrhagic fever MONDO:0005108 DOID:0050199 DOID:934 viral infectious disease
MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type MONDO:0005784 DOID:0050200 DOID:11266 hantavirus hemorrhagic fever with renal syndrome
MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type MONDO:0005784 DOID:0050201 DOID:11266 hantavirus hemorrhagic fever with renal syndrome
+MONDO:0000286 Epstein-Barr virus hepatitis MONDO:0005111 DOID:0050204 DOID:2938 Epstein-Barr virus infection
MONDO:0000286 Epstein-Barr virus hepatitis MONDO:0006011 DOID:0050204 DOID:1884 viral hepatitis
MONDO:0000288 polycystic echinococcosis MONDO:0005154 DOID:0050218 DOID:409 liver disorder
MONDO:0000288 polycystic echinococcosis MONDO:0005738 DOID:0050218 DOID:1496 echinococcosis
@@ -210,7 +212,6 @@ MONDO:0000636 musculoskeletal system benign neoplasm MONDO:0002081 DOID:0060099
MONDO:0000636 musculoskeletal system benign neoplasm MONDO:0005165 DOID:0060099 DOID:0060085 benign neoplasm
MONDO:0000637 musculoskeletal system cancer MONDO:0002081 DOID:0060100 DOID:17 musculoskeletal system disorder
MONDO:0000637 musculoskeletal system cancer MONDO:0004992 DOID:0060100 DOID:0050686 cancer
-MONDO:0000642 brain meningioma MONDO:0016642 DOID:0060106 DOID:3565 meningioma
MONDO:0000643 vulvar benign neoplasm MONDO:0000624 DOID:0060109 DOID:0060086 benign female reproductive system neoplasm
MONDO:0000644 cervical benign neoplasm MONDO:0000632 DOID:0060110 DOID:0060095 uterine benign neoplasm
MONDO:0000645 fallopian tube benign neoplasm MONDO:0000624 DOID:0060111 DOID:0060086 benign female reproductive system neoplasm
@@ -307,6 +308,7 @@ MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0009637
MONDO:0000866 hereditary myoglobinuria MONDO:0005336 DOID:0080108 DOID:423 myopathy
MONDO:0000870 childhood acute lymphoblastic leukemia MONDO:0004967 DOID:0080144 DOID:9952 acute lymphoblastic leukemia
MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0000870 DOID:0080145 DOID:0080144 childhood acute lymphoblastic leukemia
+MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0004963 DOID:0080145 DOID:5603 T-cell acute lymphoblastic leukemia
MONDO:0000872 B-cell childhood acute lymphoblastic leukemia MONDO:0000870 DOID:0080146 DOID:0080144 childhood acute lymphoblastic leukemia
MONDO:0000874 T-cell childhood lymphoblastic lymphoma MONDO:0000873 DOID:0080148 DOID:0080147 lymphoblastic lymphoma
MONDO:0000875 adult acute monocytic leukemia MONDO:0007896 DOID:0080149 DOID:8864 acute monocytic leukemia
@@ -1194,7 +1196,6 @@ MONDO:0002009 major depressive disorder MONDO:0002050 DOID:1470 DOID:1596 depres
MONDO:0002010 FG syndrome MONDO:0002254 DOID:14711 DOID:225 syndromic disease
MONDO:0002012 methylmalonic acidemia MONDO:0000688 DOID:14749 DOID:0060159 inborn organic aciduria
MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type MONDO:0006025 DOID:14759 DOID:0050737 autosomal recessive disease
-MONDO:0002016 benign familial neonatal epilepsy MONDO:0000412 DOID:14777 DOID:0050702 neonatal period electroclinical syndrome
MONDO:0002017 olivopontocerebellar atrophy MONDO:0005559 DOID:14784 DOID:1289 neurodegenerative disease
MONDO:0002021 gingival disorder MONDO:0002635 DOID:1483 DOID:3388 periodontal disorder
MONDO:0002026 candidiasis MONDO:0002312 DOID:1508 DOID:2473 opportunistic mycosis
@@ -1706,6 +1707,7 @@ MONDO:0002768 true hermaphroditism MONDO:0002145 DOID:3763 DOID:1923 disorder of
MONDO:0002769 leukorrhea MONDO:0002770 DOID:3766 DOID:3767 vaginal discharge
MONDO:0002770 vaginal discharge MONDO:0001433 DOID:3767 DOID:121 vaginal disorder
MONDO:0002771 pulmonary fibrosis MONDO:0015925 DOID:3770 DOID:3082 interstitial lung disease
+MONDO:0002772 intraventricular meningioma MONDO:0016642 DOID:3772 DOID:3565 meningioma
MONDO:0002775 anovulation MONDO:0005558 DOID:3781 DOID:1100 ovarian disorder
MONDO:0002776 external ear disorder MONDO:0002409 DOID:379 DOID:2742 auditory system disorder
MONDO:0002778 epidural spinal canal meningioma MONDO:0001279 DOID:3809 DOID:1140 intraspinal meningioma
@@ -1725,7 +1727,6 @@ MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm MO
MONDO:0002796 melanotic medulloblastoma MONDO:0007959 DOID:3868 DOID:0050902 medulloblastoma
MONDO:0002797 childhood medulloblastoma MONDO:0007959 DOID:3869 DOID:0050902 medulloblastoma
MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm MONDO:0000640 DOID:3870 DOID:0060103 central nervous system primitive neuroectodermal neoplasm
-MONDO:0002799 nodular medulloblastoma MONDO:0007959 DOID:3873 DOID:0050902 medulloblastoma
MONDO:0002800 thrombophlebitis MONDO:0004625 DOID:3875 DOID:864 phlebitis
MONDO:0002801 colonic pseudo-obstruction MONDO:0002802 DOID:3876 DOID:3877 functional colonic disease
MONDO:0002802 functional colonic disease MONDO:0003409 DOID:3877 DOID:5353 colonic disorder
@@ -2030,7 +2031,6 @@ MONDO:0003249 pineal gland cancer MONDO:0021069 DOID:5032 DOID:170 malignant end
MONDO:0003256 neurohypophysis granular cell tumor MONDO:0003257 DOID:5047 DOID:5048 posterior pituitary gland neoplasm
MONDO:0003258 hobnail hemangioma MONDO:0006500 DOID:505 DOID:255 hemangioma
MONDO:0003260 adult cerebellar neoplasm MONDO:0002913 DOID:5056 DOID:4205 cerebellar neoplasm
-MONDO:0003261 papillary meningioma of the cerebellum MONDO:0000642 DOID:5057 DOID:0060106 brain meningioma
MONDO:0003261 papillary meningioma of the cerebellum MONDO:0002913 DOID:5057 DOID:4205 cerebellar neoplasm
MONDO:0003262 rhabdoid meningioma MONDO:0016642 DOID:5058 DOID:3565 meningioma
MONDO:0003263 childhood cerebellar neoplasm MONDO:0002913 DOID:5059 DOID:4205 cerebellar neoplasm
@@ -2215,9 +2215,7 @@ MONDO:0003529 acute pyelonephritis MONDO:0006939 DOID:559 DOID:11400 pyelonephri
MONDO:0003531 papillary eccrine carcinoma MONDO:0024240 DOID:5591 DOID:4920 eccrine carcinoma
MONDO:0003534 papillary thymic adenocarcinoma MONDO:0003209 DOID:5595 DOID:4923 thymus gland adenocarcinoma
MONDO:0003535 fallopian tube papillary adenocarcinoma MONDO:0002746 DOID:5597 DOID:3706 fallopian tube adenocarcinoma
-MONDO:0003539 T-cell adult acute lymphocytic leukemia MONDO:0003540 DOID:5602 DOID:5603 acute T cell leukemia
MONDO:0003539 T-cell adult acute lymphocytic leukemia MONDO:0003541 DOID:5602 DOID:5604 adult acute lymphoblastic leukemia
-MONDO:0003540 acute T cell leukemia MONDO:0004967 DOID:5603 DOID:9952 acute lymphoblastic leukemia
MONDO:0003541 adult acute lymphoblastic leukemia MONDO:0004967 DOID:5604 DOID:9952 acute lymphoblastic leukemia
MONDO:0003542 dental pulp calcification MONDO:0003394 DOID:5608 DOID:5330 dental pulp disorder
MONDO:0003543 trigeminal nerve disorder MONDO:0003569 DOID:561 DOID:5656 cranial nerve neuropathy
@@ -2372,8 +2370,8 @@ MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma MONDO:00
MONDO:0003769 herpetic gastritis MONDO:0002270 DOID:6102 DOID:2327 viral gastritis
MONDO:0003770 thoracic spinal canal and spinal cord meningioma MONDO:0001279 DOID:6103 DOID:1140 intraspinal meningioma
MONDO:0003771 jugular foramen meningioma MONDO:0016642 DOID:6110 DOID:3565 meningioma
-MONDO:0003772 cerebral meningioma MONDO:0000642 DOID:6112 DOID:0060106 brain meningioma
MONDO:0003772 cerebral meningioma MONDO:0002731 DOID:6112 DOID:368 cerebral hemisphere cancer
+MONDO:0003772 cerebral meningioma MONDO:0850302 DOID:6112 DOID:0060106 intracranial meningioma
MONDO:0003773 intracerebral cystic meningioma MONDO:0003772 DOID:6113 DOID:6112 cerebral meningioma
MONDO:0003774 cerebral convexity meningioma MONDO:0003772 DOID:6114 DOID:6112 cerebral meningioma
MONDO:0003775 lateral ventricle meningioma MONDO:0002772 DOID:6115 DOID:3772 intraventricular meningioma
@@ -2433,8 +2431,8 @@ MONDO:0003851 ovarian fetiform teratoma MONDO:0003820 DOID:6314 DOID:6231 mature
MONDO:0003852 ovarian solid teratoma MONDO:0003820 DOID:6315 DOID:6231 mature ovarian teratoma
MONDO:0003853 Bartholin gland adenocarcinoma MONDO:0002829 DOID:6316 DOID:3999 bartholin gland carcinoma
MONDO:0003859 bilateral meningioma of optic nerve MONDO:0002640 DOID:6335 DOID:3419 optic nerve neoplasm
-MONDO:0003860 cerebellopontine angle meningioma MONDO:0000642 DOID:6337 DOID:0060106 brain meningioma
MONDO:0003860 cerebellopontine angle meningioma MONDO:0002553 DOID:6337 DOID:3200 cerebellopontine angle tumor
+MONDO:0003860 cerebellopontine angle meningioma MONDO:0850302 DOID:6337 DOID:0060106 intracranial meningioma
MONDO:0003861 vulvar eccrine adenocarcinoma MONDO:0024336 DOID:6339 DOID:2098 vulvar adenocarcinoma
MONDO:0003862 melanotic psammomatous malignant peripheral nerve sheath tumor MONDO:0003863 DOID:6344 DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath
MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath MONDO:0017827 DOID:6345 DOID:5940 malignant peripheral nerve sheath tumor
@@ -2567,7 +2565,7 @@ MONDO:0004042 urethra inverted papilloma MONDO:0002221 DOID:6934 DOID:2140 ureth
MONDO:0004043 ureter inverted papilloma MONDO:0004044 DOID:6935 DOID:6936 ureter urothelial papilloma
MONDO:0004044 ureter urothelial papilloma MONDO:0001398 DOID:6936 DOID:11885 ureter benign neoplasm
MONDO:0004045 pediatric intraocular retinoblastoma MONDO:0003077 DOID:6938 DOID:4653 intraocular retinoblastoma
-MONDO:0004046 childhood brain meningioma MONDO:0000642 DOID:6939 DOID:0060106 brain meningioma
+MONDO:0004046 childhood brain meningioma MONDO:0850302 DOID:6939 DOID:0060106 intracranial meningioma
MONDO:0004047 sphenoidal sinus neoplasm MONDO:0005289 DOID:6947 DOID:1350 paranasal sinus neoplasm
MONDO:0004048 immature gastric teratoma MONDO:0003112 DOID:6948 DOID:4716 malignant gastric germ cell tumor
MONDO:0004049 combat disorder MONDO:0003763 DOID:6950 DOID:6088 acute stress disorder
@@ -2825,7 +2823,6 @@ MONDO:0004377 pancreatic non-functioning delta cell tumor MONDO:0004334 DOID:784
MONDO:0004378 pediatric cerebral ependymoblastoma MONDO:0016715 DOID:7841 DOID:0080903 ependymoblastoma
MONDO:0004379 female breast carcinoma MONDO:0004989 DOID:7843 DOID:3459 breast carcinoma
MONDO:0004380 dendritic cell sarcoma MONDO:0005089 DOID:7849 DOID:1115 sarcoma
-MONDO:0004380 dendritic cell sarcoma MONDO:0006247 DOID:7849 DOID:5621 histiocytic and dendritic cell neoplasm
MONDO:0004382 laryngeal disorder MONDO:0004867 DOID:786 DOID:974 upper respiratory tract disorder
MONDO:0004383 adult central nervous system germinoma MONDO:0002999 DOID:7867 DOID:4438 central nervous system germinoma
MONDO:0004386 uterine corpus atypical polypoid adenomyoma MONDO:0003237 DOID:7878 DOID:4994 adenomyoma of uterine corpus
@@ -2868,6 +2865,7 @@ MONDO:0004436 ovarian myxoid liposarcoma MONDO:0003589 DOID:8023 DOID:5697 lipos
MONDO:0004436 ovarian myxoid liposarcoma MONDO:0013280 DOID:8023 DOID:5363 myxoid liposarcoma
MONDO:0004438 sporadic breast cancer MONDO:0004989 DOID:8029 DOID:3459 breast carcinoma
MONDO:0004439 periocular meningioma MONDO:0016642 DOID:8030 DOID:3565 meningioma
+MONDO:0004440 pineal region meningioma MONDO:0016642 DOID:8031 DOID:3565 meningioma
MONDO:0004441 childhood ovarian embryonal carcinoma MONDO:0003581 DOID:8036 DOID:5681 ovarian embryonal carcinoma
MONDO:0004442 testis polyembryoma MONDO:0003510 DOID:8042 DOID:5556 malignant testicular germ cell tumor
MONDO:0004443 chest wall parachordoma MONDO:0006351 DOID:8043 DOID:2647 parachordoma
@@ -3245,6 +3243,7 @@ MONDO:0004952 Hodgkins lymphoma MONDO:0005062 DOID:8567 DOID:0060058 lymphoma
MONDO:0004953 invasive ductal breast carcinoma MONDO:0005590 DOID:3008 DOID:3007 breast ductal adenocarcinoma
MONDO:0004957 mucinous adenocarcinoma MONDO:0004970 DOID:3030 DOID:299 adenocarcinoma
MONDO:0004959 plasma cell neoplasm MONDO:0004949 DOID:6536 DOID:706 neoplasm of mature B-cells
+MONDO:0004963 T-cell acute lymphoblastic leukemia MONDO:0004967 DOID:5603 DOID:9952 acute lymphoblastic leukemia
MONDO:0004966 gastritis MONDO:0004298 DOID:4029 DOID:76 stomach disorder
MONDO:0004967 acute lymphoblastic leukemia MONDO:0010643 DOID:9952 DOID:12603 acute leukemia
MONDO:0004970 adenocarcinoma MONDO:0004993 DOID:299 DOID:305 carcinoma
@@ -3362,7 +3361,6 @@ MONDO:0005178 osteoarthritis MONDO:0005578 DOID:8398 DOID:848 arthritic joint di
MONDO:0005181 progressive external ophthalmoplegia MONDO:0009637 DOID:12558 DOID:699 inborn mitochondrial myopathy
MONDO:0005184 pancreatic ductal adenocarcinoma MONDO:0006047 DOID:3498 DOID:4074 pancreatic adenocarcinoma
MONDO:0005186 cocaine dependence MONDO:0005303 DOID:9975 DOID:9974 drug dependence
-MONDO:0005190 macroglobulinemia MONDO:0002273 DOID:9080 DOID:2345 plasma protein metabolism disease
MONDO:0005192 exocrine pancreatic carcinoma MONDO:0002116 DOID:4905 DOID:1795 malignant exocrine pancreas neoplasm
MONDO:0005201 restrictive cardiomyopathy MONDO:0000591 DOID:397 DOID:0060036 intrinsic cardiomyopathy
MONDO:0005206 renal carcinoma MONDO:0002367 DOID:4451 DOID:263 kidney cancer
@@ -3606,6 +3604,7 @@ MONDO:0005802 hymenolepiasis MONDO:0004664 DOID:10074 DOID:883 helminthiasis
MONDO:0005805 hypodermyiasis MONDO:0019147 DOID:12926 DOID:11080 myiasis
MONDO:0005806 hypopharynx cancer MONDO:0005517 DOID:8533 DOID:0060119 pharynx cancer
MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia MONDO:0003783 DOID:3109 DOID:614 lymphopenia
+MONDO:0005810 infectious mononucleosis MONDO:0005111 DOID:8568 DOID:2938 Epstein-Barr virus infection
MONDO:0005814 intestinal cancer MONDO:0002516 DOID:10155 DOID:3119 digestive system cancer
MONDO:0005817 Kluver-Bucy syndrome MONDO:0001162 DOID:2510 DOID:10937 impulse control disorder
MONDO:0005819 laryngeal tuberculosis MONDO:0002647 DOID:1583 DOID:3437 laryngitis
@@ -3786,6 +3785,7 @@ MONDO:0006230 gastric squamous cell carcinoma MONDO:0004950 DOID:5516 DOID:5517
MONDO:0006230 gastric squamous cell carcinoma MONDO:0005096 DOID:5516 DOID:1749 squamous cell carcinoma
MONDO:0006234 grade III prostatic intraepithelial neoplasia MONDO:0004647 DOID:8634 DOID:8719 in situ carcinoma
MONDO:0006243 hepatoid adenocarcinoma MONDO:0004970 DOID:0060534 DOID:299 adenocarcinoma
+MONDO:0006260 kidney medullary carcinoma MONDO:0005086 DOID:0070475 DOID:4450 renal cell carcinoma
MONDO:0006262 lacrimal gland adenoid cystic carcinoma MONDO:0002475 DOID:4870 DOID:298 lacrimal gland adenocarcinoma
MONDO:0006264 laryngeal adenoid cystic carcinoma MONDO:0002358 DOID:4869 DOID:2600 laryngeal carcinoma
MONDO:0006266 Leydig cell tumor MONDO:0006055 DOID:2696 DOID:192 sex cord-stromal tumor
@@ -4288,7 +4288,7 @@ MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant MONDO:0015998 DOID:
MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 MONDO:0010004 DOID:0060784 DOID:0060782 EEC syndrome
MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:0020066 DOID:14757 DOID:13359 Ehlers-Danlos syndrome
MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type MONDO:0000426 DOID:14756 DOID:0050736 autosomal dominant disease
-MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0020066 DOID:0080727 DOID:13359 Ehlers-Danlos syndrome
+MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type MONDO:0020066 DOID:0080727 DOID:13359 Ehlers-Danlos syndrome
MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0020066 DOID:0050802 DOID:13359 Ehlers-Danlos syndrome
MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0000426 DOID:10017 DOID:0050736 autosomal dominant disease
MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017169 DOID:10017 DOID:3125 multiple endocrine neoplasia
@@ -4309,6 +4309,7 @@ MONDO:0007603 Felty syndrome MONDO:0002254 DOID:11042 DOID:225 syndromic disease
MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0001584 DOID:0080143 DOID:1279 ocular motility disease
MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0015452 DOID:0070042 DOID:1925 Coffin-Siris syndrome
MONDO:0007619 isolated congenital adermatoglyphia MONDO:0000426 DOID:0111357 DOID:0050736 autosomal dominant disease
+MONDO:0007630 North Carolina macular dystrophy MONDO:0031166 DOID:0070439 DOID:0070438 macular dystrophy, retinal
MONDO:0007635 Frasier syndrome MONDO:0000426 DOID:0050438 DOID:0050736 autosomal dominant disease
MONDO:0007635 Frasier syndrome MONDO:0002254 DOID:0050438 DOID:225 syndromic disease
MONDO:0007636 frontorhiny MONDO:0016643 DOID:0081045 DOID:0081044 frontonasal dysplasia
@@ -4328,6 +4329,7 @@ MONDO:0007701 progressive familial heart block type II MONDO:0019490 DOID:011107
MONDO:0007710 facial hemiatrophy MONDO:0002098 DOID:1757 DOID:1756 facial nerve disorder
MONDO:0007718 hepatic adenomas, familial MONDO:0018902 DOID:0111366 DOID:0050868 hepatocellular adenoma
MONDO:0007721 hiatus hernia MONDO:0004298 DOID:12642 DOID:76 stomach disorder
+MONDO:0007729 developmental dysplasia of the hip 1 MONDO:0000158 DOID:0060931 DOID:0060930 developmental dysplasia of the hip
MONDO:0007732 Holt-Oram syndrome MONDO:0000426 DOID:0060468 DOID:0050736 autosomal dominant disease
MONDO:0007733 holoprosencephaly 3 MONDO:0016296 DOID:0110875 DOID:4621 holoprosencephaly
MONDO:0007734 holoprosencephaly 4 MONDO:0016296 DOID:0110880 DOID:4621 holoprosencephaly
@@ -4425,6 +4427,7 @@ MONDO:0008060 nonsyndromic congenital nail disorder 1 MONDO:0019284 DOID:0080079
MONDO:0008061 nail-patella syndrome MONDO:0000426 DOID:9467 DOID:0050736 autosomal dominant disease
MONDO:0008061 nail-patella syndrome MONDO:0002254 DOID:9467 DOID:225 syndromic disease
MONDO:0008076 amyotrophic neuralgia MONDO:0006683 DOID:10383 DOID:3690 brachial plexus neuropathy
+MONDO:0008078 neurofibromatosis, familial spinal MONDO:0018975 DOID:0070482 DOID:0111253 neurofibromatosis type 1
MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0000426 DOID:10016 DOID:0050736 autosomal dominant disease
MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A MONDO:0018213 DOID:0070152 DOID:0070162 hereditary sensory and autonomic neuropathy type 1
MONDO:0008092 hereditary neutrophilia MONDO:0004805 DOID:0090120 DOID:9500 leukocyte disorder
@@ -4438,6 +4441,7 @@ MONDO:0008125 nonsyndromic congenital nail disorder 5 MONDO:0019284 DOID:0080083
MONDO:0008132 optic atrophy with demyelinating disease of CNS MONDO:0020478 DOID:0111756 DOID:0111754 Leber plus disease
MONDO:0008137 orofaciodigital syndrome X MONDO:0015375 DOID:0060380 DOID:4501 orofaciodigital syndrome
MONDO:0008157 Buschke-Ollendorff syndrome MONDO:0002254 DOID:0111536 DOID:225 syndromic disease
+MONDO:0008164 otosclerosis 1 MONDO:0005349 DOID:0060920 DOID:12185 otosclerosis
MONDO:0008167 dermoid cyst of ovary MONDO:0002378 DOID:5117 DOID:2658 dermoid cyst
MONDO:0008170 ovarian cancer MONDO:0001416 DOID:2394 DOID:120 female reproductive organ cancer
MONDO:0008171 nephrolithiasis MONDO:0005240 DOID:585 DOID:557 kidney disorder
@@ -4457,7 +4461,6 @@ MONDO:0008219 pemphigus vulgaris MONDO:0006594 DOID:0060851 DOID:9182 pemphigus
MONDO:0008223 hypokalemic periodic paralysis MONDO:0000995 DOID:14452 DOID:1029 familial periodic paralysis
MONDO:0008224 hyperkalemic periodic paralysis MONDO:0000995 DOID:14451 DOID:1029 familial periodic paralysis
MONDO:0008228 pernicious anemia MONDO:0006873 DOID:13381 DOID:5113 nutritional deficiency disease
-MONDO:0008231 Peyronie disease MONDO:0002036 DOID:8616 DOID:1529 penile disorder
MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0000426 DOID:0050430 DOID:0050736 autosomal dominant disease
MONDO:0008243 Pick disease MONDO:0017276 DOID:11870 DOID:9255 frontotemporal dementia
MONDO:0008244 piebaldism MONDO:0000426 DOID:3263 DOID:0050736 autosomal dominant disease
@@ -4667,7 +4670,6 @@ MONDO:0009082 high myopia-sensorineural deafness syndrome MONDO:0002254 DOID:011
MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0006025 DOID:0090112 DOID:0050737 autosomal recessive disease
MONDO:0009101 Wolfram syndrome 1 MONDO:0018105 DOID:0110629 DOID:10632 Wolfram syndrome
MONDO:0009104 Donnai-Barrow syndrome MONDO:0006025 DOID:0090144 DOID:0050737 autosomal recessive disease
-MONDO:0009105 trichohepatoenteric syndrome MONDO:0002254 DOID:0111414 DOID:225 syndromic disease
MONDO:0009107 diastrophic dysplasia MONDO:0005516 DOID:14687 DOID:2256 osteochondrodysplasia
MONDO:0009111 dihydropyrimidinuria MONDO:0019238 DOID:0111629 DOID:0050832 inborn disorder of pyrimidine metabolism
MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:0015776 DOID:0110852 DOID:2580 rhizomelic chondrodysplasia punctata
@@ -4751,6 +4753,7 @@ MONDO:0009380 Dubin-Johnson syndrome MONDO:0002408 DOID:12308 DOID:2741 heredita
MONDO:0009387 familial lipoprotein lipase deficiency MONDO:0018637 DOID:14118 DOID:0111417 familial chylomicronemia syndrome
MONDO:0009394 juvenile Paget disease MONDO:0005382 DOID:0081368 DOID:5408 bone Paget disease
MONDO:0009395 hyperostosis corticalis generalisata MONDO:0002185 DOID:0080036 DOID:205 hyperostosis
+MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 MONDO:0016596 DOID:0070433 DOID:0070431 hyperphosphatasia-intellectual disability syndrome
MONDO:0009400 hyperprolinemia type 1 MONDO:0023419 DOID:0080542 DOID:0080541 hyperprolinemia
MONDO:0009401 hyperprolinemia type 2 MONDO:0023419 DOID:0080543 DOID:0080541 hyperprolinemia
MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0006025 DOID:14670 DOID:0050737 autosomal recessive disease
@@ -4918,6 +4921,7 @@ MONDO:0009999 autosomal recessive Robinow syndrome MONDO:0019978 DOID:0060764 DO
MONDO:0010004 EEC syndrome MONDO:0000426 DOID:0060782 DOID:0050736 autosomal dominant disease
MONDO:0010004 EEC syndrome MONDO:0002254 DOID:0060782 DOID:225 syndromic disease
MONDO:0010006 Sandhoff disease MONDO:0017720 DOID:3323 DOID:3321 GM2 gangliosidosis
+MONDO:0010010 Schinzel-Giedion syndrome MONDO:0019287 DOID:0070509 DOID:2121 ectodermal dysplasia syndrome
MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0017278 DOID:0050168 DOID:14040 autoimmune polyendocrinopathy
MONDO:0010013 schneckenbecken dysplasia MONDO:0005516 DOID:0050775 DOID:2256 osteochondrodysplasia
MONDO:0010015 anterior segment dysgenesis 7 MONDO:0019503 DOID:0080612 DOID:0060648 anterior segment dysgenesis
@@ -4976,6 +4980,7 @@ MONDO:0010196 Werner syndrome MONDO:0015333 DOID:5688 DOID:0081332 progeroid syn
MONDO:0010197 whistling face syndrome, recessive form MONDO:0008675 DOID:0111606 DOID:0111604 Freeman-Sheldon syndrome
MONDO:0010200 Wilson disease MONDO:0004689 DOID:893 DOID:896 inborn metal metabolism disorder
MONDO:0010206 hypotrichosis 8 MONDO:0003037 DOID:0110705 DOID:4535 hypotrichosis
+MONDO:0010209 xanthinuria type I MONDO:0018106 DOID:0070452 DOID:0060236 hereditary xanthinuria
MONDO:0010210 xeroderma pigmentosum group A MONDO:0019600 DOID:0110843 DOID:0050427 xeroderma pigmentosum
MONDO:0010211 xeroderma pigmentosum group C MONDO:0019600 DOID:0110844 DOID:0050427 xeroderma pigmentosum
MONDO:0010212 xeroderma pigmentosum group D MONDO:0019600 DOID:0110845 DOID:0050427 xeroderma pigmentosum
@@ -5113,6 +5118,7 @@ MONDO:0010508 intellectual disability, X-linked 103 MONDO:0019181 DOID:0112020 D
MONDO:0010509 intellectual disability, X-linked 104 MONDO:0019181 DOID:0112018 DOID:0050776 non-syndromic X-linked intellectual disability
MONDO:0010510 intellectual disability, X-linked 105 MONDO:0019181 DOID:0112036 DOID:0050776 non-syndromic X-linked intellectual disability
MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked MONDO:0018801 DOID:0111863 DOID:0111862 congenital bilateral absence of vas deferens
+MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type MONDO:0020119 DOID:0070538 DOID:0060309 X-linked syndromic intellectual disability
MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO:0015131 DOID:0112001 DOID:0111962 combined immunodeficiency
MONDO:0010515 Meester-Loeys syndrome MONDO:0002254 DOID:0111861 DOID:225 syndromic disease
MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked MONDO:0016575 DOID:0111850 DOID:9562 primary ciliary dyskinesia
@@ -5357,6 +5363,7 @@ MONDO:0011331 congenital chylothorax MONDO:0002037 DOID:0060646 DOID:1532 pleura
MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0000426 DOID:0112199 DOID:0050736 autosomal dominant disease
MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0019675 DOID:0112199 DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity
MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0005501 DOID:0070258 DOID:0050571 congenital disorder of glycosylation type II
+MONDO:0011346 xanthinuria type II MONDO:0018106 DOID:0070453 DOID:0060236 hereditary xanthinuria
MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 MONDO:0019587 DOID:0110548 DOID:0050564 autosomal dominant nonsyndromic hearing loss
MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 MONDO:0019588 DOID:0110479 DOID:0050565 hearing loss, autosomal recessive
MONDO:0011355 cone-rod dystrophy 7 MONDO:0015993 DOID:0111012 DOID:0050572 cone-rod dystrophy
@@ -5442,6 +5449,7 @@ MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 MONDO:0017338 DOID:
MONDO:0011583 cerebral amyloid angiopathy, APP-related MONDO:0005620 DOID:0070028 DOID:9246 cerebral amyloid angiopathy
MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0019391 DOID:0111089 DOID:13636 Fanconi anemia
MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 MONDO:0015363 DOID:0111065 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive
+MONDO:0011586 otosclerosis 2 MONDO:0005349 DOID:0060921 DOID:12185 otosclerosis
MONDO:0011588 platelet-type bleeding disorder 12 MONDO:0000009 DOID:0111058 DOID:2218 inherited bleeding disorder, platelet-type
MONDO:0011592 exudative vitreoretinopathy 3 MONDO:0019516 DOID:0111409 DOID:0050535 exudative vitreoretinopathy
MONDO:0011593 seizures, benign familial infantile, 2 MONDO:0017615 DOID:0081115 DOID:0060169 benign familial infantile epilepsy
@@ -5556,10 +5564,12 @@ MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0005500 DOID:00805
MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0005164 DOID:3507 DOID:3355 fibrosarcoma
MONDO:0011935 retinitis pigmentosa 30 MONDO:0019200 DOID:0110406 DOID:10584 retinitis pigmentosa
MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0016073 DOID:0111805 DOID:0080636 syndromic microphthalmia
+MONDO:0011937 peeling skin syndrome 4 MONDO:0019347 DOID:0070523 DOID:0060283 peeling skin syndrome
MONDO:0011938 atrial septal defect 2 MONDO:0006664 DOID:0110107 DOID:1882 atrial septal defect
MONDO:0011945 Gaucher disease perinatal lethal MONDO:0018150 DOID:0110960 DOID:1926 Gaucher disease
MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0020135 DOID:0060272 DOID:0060264 pontocerebellar hypoplasia
MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0015244 DOID:0111617 DOID:0050950 autosomal recessive cerebellar ataxia
+MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 DOID:0070517 DOID:0070438 macular dystrophy, retinal
MONDO:0011959 sweet syndrome MONDO:0005093 DOID:0080746 DOID:37 skin disorder
MONDO:0011960 schizophrenia 11 MONDO:0005090 DOID:0070087 DOID:5419 schizophrenia
MONDO:0011962 endometrial cancer MONDO:0002715 DOID:1380 DOID:363 uterine cancer
@@ -5578,6 +5588,7 @@ MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 MONDO:0019588 DOI
MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 MONDO:0019587 DOID:0110567 DOID:0050564 autosomal dominant nonsyndromic hearing loss
MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0004643 DOID:8552 DOID:8692 myeloid leukemia
MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0019312 DOID:0060540 DOID:3753 Hermansky-Pudlak syndrome
+MONDO:0011999 otosclerosis 3 MONDO:0005349 DOID:0060922 DOID:12185 otosclerosis
MONDO:0012000 specific phobia MONDO:0003699 DOID:599 DOID:591 phobic disorder
MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 MONDO:0019588 DOID:0110499 DOID:0050565 hearing loss, autosomal recessive
MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 MONDO:0019588 DOID:0110497 DOID:0050565 hearing loss, autosomal recessive
@@ -5619,9 +5630,12 @@ MONDO:0012106 microcephaly 5, primary, autosomal recessive MONDO:0016660 DOID:00
MONDO:0012111 hypertrophic cardiomyopathy 8 MONDO:0024573 DOID:0110314 DOID:0080326 familial hypertrophic cardiomyopathy
MONDO:0012112 hypertrophic cardiomyopathy 10 MONDO:0024573 DOID:0110316 DOID:0080326 familial hypertrophic cardiomyopathy
MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0005500 DOID:0080564 DOID:0050570 congenital disorder of glycosylation type I
+MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0005501 DOID:0070257 DOID:0050571 congenital disorder of glycosylation type II
+MONDO:0012121 otosclerosis 5 MONDO:0005349 DOID:0060924 DOID:12185 otosclerosis
MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0005500 DOID:0080557 DOID:0050570 congenital disorder of glycosylation type I
MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0015152 DOID:0110283 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy
MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 MONDO:0000172 DOID:0110637 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B
+MONDO:0012139 macular dystrophy, retinal, 3 MONDO:0031166 DOID:0070440 DOID:0070438 macular dystrophy, retinal
MONDO:0012155 choanal atresia MONDO:0002232 DOID:9574 DOID:2163 nasal cavity disorder
MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0016763 DOID:0112300 DOID:0112295 spondylometaphyseal dysplasia
MONDO:0012162 patterned macular dystrophy 2 MONDO:0020381 DOID:0060864 DOID:0060863 patterned macular dystrophy
@@ -5676,6 +5690,7 @@ MONDO:0012320 migraine, familial hemiplegic, 3 MONDO:0000700 DOID:0111183 DOID:0
MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 MONDO:0019588 DOID:0110500 DOID:0050565 hearing loss, autosomal recessive
MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 MONDO:0019588 DOID:0110503 DOID:0050565 hearing loss, autosomal recessive
MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 MONDO:0019588 DOID:0110509 DOID:0050565 hearing loss, autosomal recessive
+MONDO:0012345 acral peeling skin syndrome MONDO:0019347 DOID:0070521 DOID:0060283 peeling skin syndrome
MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 MONDO:0018214 DOID:0111293 DOID:0060170 generalized epilepsy with febrile seizures plus
MONDO:0012348 maturity-onset diabetes of the young type 8 MONDO:0018911 DOID:0111105 DOID:0050524 maturity-onset diabetes of the young
MONDO:0012353 erythrocytosis, familial, 3 MONDO:0001115 DOID:0080338 DOID:10780 familial polycythemia
@@ -5798,6 +5813,8 @@ MONDO:0012690 Noonan syndrome 5 MONDO:0018997 DOID:0060583 DOID:3490 Noonan synd
MONDO:0012691 LEOPARD syndrome 2 MONDO:0007893 DOID:0080549 DOID:14291 Noonan syndrome with multiple lentigines
MONDO:0012694 Joubert syndrome 7 MONDO:0018772 DOID:0111002 DOID:0050777 Joubert syndrome
MONDO:0012695 Meckel syndrome, type 5 MONDO:0018921 DOID:0070119 DOID:0050778 Meckel syndrome
+MONDO:0012696 otosclerosis 4 MONDO:0005349 DOID:0060923 DOID:12185 otosclerosis
+MONDO:0012697 otosclerosis 7 MONDO:0005349 DOID:0060925 DOID:12185 otosclerosis
MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0015152 DOID:0110296 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy
MONDO:0012701 cataract 12 multiple types MONDO:0005129 DOID:0110239 DOID:83 cataract
MONDO:0012705 familial temporal lobe epilepsy 3 MONDO:0005115 DOID:0060750 DOID:3328 temporal lobe epilepsy
@@ -5827,6 +5844,7 @@ MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0000
MONDO:0012789 dystonia 16 MONDO:0000478 DOID:0090048 DOID:0050837 multifocal dystonia
MONDO:0012794 ANE syndrome MONDO:0002254 DOID:0112244 DOID:225 syndromic disease
MONDO:0012796 retinitis pigmentosa 41 MONDO:0019200 DOID:0110376 DOID:10584 retinitis pigmentosa
+MONDO:0012797 otosclerosis 8 MONDO:0005349 DOID:0060926 DOID:12185 otosclerosis
MONDO:0012799 hypertrophic cardiomyopathy 11 MONDO:0024573 DOID:0110317 DOID:0080326 familial hypertrophic cardiomyopathy
MONDO:0012804 hypertrophic cardiomyopathy 12 MONDO:0024573 DOID:0110318 DOID:0080326 familial hypertrophic cardiomyopathy
MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 MONDO:0010293 DOID:0081079 DOID:0081077 ectodermal dysplasia and immune deficiency
@@ -6157,6 +6175,7 @@ MONDO:0013623 platelet-type bleeding disorder 11 MONDO:0000009 DOID:0111057 DOID
MONDO:0013624 Rafiq syndrome MONDO:0019502 DOID:0081097 DOID:0060308 autosomal recessive non-syndromic intellectual disability
MONDO:0013625 Parkinson disease 17 MONDO:0008199 DOID:0060897 DOID:0060892 late-onset Parkinson disease
MONDO:0013626 psoriasis 14, pustular MONDO:0005083 DOID:0080474 DOID:8893 psoriasis
+MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 MONDO:0016596 DOID:0070435 DOID:0070431 hyperphosphatasia-intellectual disability syndrome
MONDO:0013629 intellectual disability, autosomal recessive 16 MONDO:0019502 DOID:0081189 DOID:0060308 autosomal recessive non-syndromic intellectual disability
MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 MONDO:0019587 DOID:0110562 DOID:0050564 autosomal dominant nonsyndromic hearing loss
MONDO:0013634 neuropathy, hereditary sensory, type 2C MONDO:0019941 DOID:0070147 DOID:0070161 hereditary sensory and autonomic neuropathy type 2
@@ -6248,6 +6267,7 @@ MONDO:0013873 IMAGe syndrome MONDO:0002254 DOID:0050885 DOID:225 syndromic disea
MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0017359 DOID:0110001 DOID:0060336 3-methylglutaconic aciduria
MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0004069 DOID:0080363 DOID:700 inborn mitochondrial metabolism disorder
MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0006025 DOID:0080363 DOID:0050737 autosomal recessive disease
+MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 MONDO:0016596 DOID:0070434 DOID:0070431 hyperphosphatasia-intellectual disability syndrome
MONDO:0013888 tremor, hereditary essential, 4 MONDO:0003233 DOID:0111431 DOID:4990 essential tremor
MONDO:0013896 Joubert syndrome 18 MONDO:0018772 DOID:0110987 DOID:0050777 Joubert syndrome
MONDO:0013897 Loeys-Dietz syndrome 4 MONDO:0018954 DOID:0070233 DOID:0050466 Loeys-Dietz syndrome
@@ -6392,11 +6412,13 @@ MONDO:0014256 retinitis pigmentosa 67 MONDO:0019200 DOID:0110359 DOID:10584 reti
MONDO:0014260 immunodeficiency, common variable, 10 MONDO:0015517 DOID:0081152 DOID:12177 common variable immunodeficiency
MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:0000732 DOID:0111484 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0014262 Rienhoff syndrome MONDO:0018954 DOID:0070236 DOID:0050466 Loeys-Dietz syndrome
+MONDO:0014264 otosclerosis 10 MONDO:0005349 DOID:0060927 DOID:12185 otosclerosis
MONDO:0014265 Alzheimer disease 18 MONDO:0004975 DOID:0110050 DOID:10652 Alzheimer disease
MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0015131 DOID:0111935 DOID:628 combined immunodeficiency
MONDO:0014269 combined oxidative phosphorylation deficiency 19 MONDO:0000732 DOID:0111476 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0005500 DOID:0080572 DOID:0050570 congenital disorder of glycosylation type I
MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0005500 DOID:0080573 DOID:0050570 congenital disorder of glycosylation type I
+MONDO:0014277 developmental dysplasia of the hip 2 MONDO:0000158 DOID:0060932 DOID:0060930 developmental dysplasia of the hip
MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 MONDO:0019587 DOID:0110581 DOID:0050564 autosomal dominant nonsyndromic hearing loss
MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly MONDO:0018770 DOID:0110091 DOID:0050592 Jeune syndrome
MONDO:0014285 congenital dyserythropoietic anemia type type 1B MONDO:0020337 DOID:0111397 DOID:0111396 congenital dyserythropoietic anemia type 1
@@ -6408,10 +6430,12 @@ MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 MONDO:0019587 DOID
MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 MONDO:0019587 DOID:0110582 DOID:0050564 autosomal dominant nonsyndromic hearing loss
MONDO:0014296 Warburg micro syndrome 4 MONDO:0016649 DOID:0110719 DOID:0060237 Warburg micro syndrome
MONDO:0014297 Joubert syndrome 22 MONDO:0018772 DOID:0110991 DOID:0050777 Joubert syndrome
+MONDO:0014299 schwannomatosis 2 MONDO:0008075 DOID:0070481 DOID:3204 schwannomatosis
MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0005336 DOID:0111335 DOID:423 myopathy
MONDO:0014308 familial temporal lobe epilepsy 6 MONDO:0005115 DOID:0060749 DOID:3328 temporal lobe epilepsy
MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity MONDO:0003778 DOID:0111941 DOID:612 inborn error of immunity
MONDO:0014316 Alzheimer disease 19 MONDO:0004975 DOID:0110051 DOID:10652 Alzheimer disease
+MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 MONDO:0016596 DOID:0070436 DOID:0070431 hyperphosphatasia-intellectual disability syndrome
MONDO:0014323 retinitis pigmentosa 68 MONDO:0019200 DOID:0110374 DOID:10584 retinitis pigmentosa
MONDO:0014328 developmental and epileptic encephalopathy, 19 MONDO:0100062 DOID:0080431 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0014337 complex cortical dysplasia with other brain malformations 5 MONDO:0000904 DOID:0090135 DOID:0090131 complex cortical dysplasia with other brain malformations
@@ -6472,6 +6496,7 @@ MONDO:0014444 Bardet-Biedl syndrome 16 MONDO:0015229 DOID:0110138 DOID:1935 Bard
MONDO:0014445 Bardet-Biedl syndrome 17 MONDO:0015229 DOID:0110139 DOID:1935 Bardet-Biedl syndrome
MONDO:0014446 Bardet-Biedl syndrome 18 MONDO:0015229 DOID:0110140 DOID:1935 Bardet-Biedl syndrome
MONDO:0014447 Bardet-Biedl syndrome 19 MONDO:0015229 DOID:0110141 DOID:1935 Bardet-Biedl syndrome
+MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 MONDO:0016596 DOID:0070432 DOID:0070431 hyperphosphatasia-intellectual disability syndrome
MONDO:0014465 primary ciliary dyskinesia 30 MONDO:0016575 DOID:0110624 DOID:9562 primary ciliary dyskinesia
MONDO:0014468 congenital myasthenic syndrome 7 MONDO:0018940 DOID:0110659 DOID:3635 congenital myasthenic syndrome
MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 MONDO:0019588 DOID:0110464 DOID:0050565 hearing loss, autosomal recessive
@@ -6600,6 +6625,7 @@ MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarc
MONDO:0014770 Joubert syndrome 25 MONDO:0018772 DOID:0110994 DOID:0050777 Joubert syndrome
MONDO:0014771 Joubert syndrome 26 MONDO:0018772 DOID:0110995 DOID:0050777 Joubert syndrome
MONDO:0014775 combined oxidative phosphorylation deficiency 28 MONDO:0000732 DOID:0111470 DOID:0060286 combined oxidative phosphorylation deficiency
+MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 MONDO:0016596 DOID:0070437 DOID:0070431 hyperphosphatasia-intellectual disability syndrome
MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0000732 DOID:0111501 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0006025 DOID:0111501 DOID:0050737 autosomal recessive disease
MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0015152 DOID:0110290 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy
@@ -6625,7 +6651,6 @@ MONDO:0014845 spinocerebellar ataxia, autosomal recessive 22 MONDO:0015244 DOID:
MONDO:0014847 spermatogenic failure 15 MONDO:0004983 DOID:0070172 DOID:0111910 spermatogenic failure
MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 MONDO:0019587 DOID:0110592 DOID:0050564 autosomal dominant nonsyndromic hearing loss
MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 MONDO:0019587 DOID:0110587 DOID:0050564 autosomal dominant nonsyndromic hearing loss
-MONDO:0014855 intellectual disability, autosomal dominant 42 MONDO:0015802 DOID:0070072 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0000732 DOID:0111471 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0014858 intellectual disability, autosomal dominant 43 MONDO:0015802 DOID:0070073 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0014859 developmental and epileptic encephalopathy, 37 MONDO:0100062 DOID:0080435 DOID:0112202 developmental and epileptic encephalopathy
@@ -6653,6 +6678,9 @@ MONDO:0014910 primary ciliary dyskinesia 35 MONDO:0016575 DOID:0110620 DOID:9562
MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome MONDO:0005046 DOID:0080163 DOID:2914 immune system disorder
MONDO:0014920 patterned macular dystrophy 3 MONDO:0020381 DOID:0060865 DOID:0060863 patterned macular dystrophy
MONDO:0014922 myofibrillar myopathy 7 MONDO:0018943 DOID:0080098 DOID:0080307 myofibrillar myopathy
+MONDO:0014923 peeling skin syndrome 5 MONDO:0019347 DOID:0070524 DOID:0060283 peeling skin syndrome
+MONDO:0014924 epilepsy, familial focal, with variable foci 2 MONDO:0020310 DOID:0081422 DOID:0081420 familial focal epilepsy with variable foci
+MONDO:0014925 epilepsy, familial focal, with variable foci 3 MONDO:0020310 DOID:0081423 DOID:0081420 familial focal epilepsy with variable foci
MONDO:0014926 Bardet-Biedl syndrome 22 MONDO:0015229 DOID:0081011 DOID:1935 Bardet-Biedl syndrome
MONDO:0014927 Joubert syndrome 27 MONDO:0018772 DOID:0110996 DOID:0050777 Joubert syndrome
MONDO:0014928 Joubert syndrome 28 MONDO:0018772 DOID:0110997 DOID:0050777 Joubert syndrome
@@ -6786,6 +6814,7 @@ MONDO:0016011 fetal alcohol syndrome MONDO:0000408 DOID:0050665 DOID:0050696 fet
MONDO:0016011 fetal alcohol syndrome MONDO:0000408 DOID:0050667 DOID:0050696 fetal alcohol spectrum disorder
MONDO:0016022 early myoclonic encephalopathy MONDO:0000412 DOID:308 DOID:0050702 neonatal period electroclinical syndrome
MONDO:0016027 benign neonatal seizures MONDO:0000412 DOID:14264 DOID:0050702 neonatal period electroclinical syndrome
+MONDO:0016027 benign neonatal seizures MONDO:0000412 DOID:14777 DOID:0050702 neonatal period electroclinical syndrome
MONDO:0016030 Evans syndrome MONDO:0004680 DOID:8931 DOID:8925 primary thrombocytopenia
MONDO:0016033 Cornelia de Lange syndrome MONDO:0002254 DOID:11725 DOID:225 syndromic disease
MONDO:0016056 isolated congenital microcephaly MONDO:0001149 DOID:0070297 DOID:10907 microcephaly
@@ -6838,6 +6867,7 @@ MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy MONDO:0000591 DOID
MONDO:0016595 inhalational anthrax MONDO:0005119 DOID:0050160 DOID:7427 anthrax infection
MONDO:0016612 X-linked cerebellar ataxia MONDO:0000425 DOID:0050953 DOID:0050735 X-linked disease
MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:0002254 DOID:14283 DOID:225 syndromic disease
+MONDO:0016644 logopenic progressive aphasia MONDO:0019806 DOID:0081389 DOID:0081388 primary progressive aphasia
MONDO:0016648 multiple epiphyseal dysplasia MONDO:0005516 DOID:12721 DOID:2256 osteochondrodysplasia
MONDO:0016649 Warburg micro syndrome MONDO:0006025 DOID:0060237 DOID:0050737 autosomal recessive disease
MONDO:0016660 autosomal recessive primary microcephaly MONDO:0006025 DOID:0070296 DOID:0050737 autosomal recessive disease
@@ -6848,6 +6878,7 @@ MONDO:0016693 subependymal giant cell astrocytoma MONDO:0007667 DOID:5077 DOID:4
MONDO:0016702 oligoastrocytoma MONDO:0003268 DOID:7912 DOID:5076 mixed glioma
MONDO:0016705 angiocentric glioma MONDO:0021637 DOID:0081261 DOID:0080829 low grade glioma
MONDO:0016706 chordoid glioma of the third ventricle MONDO:0002682 DOID:3774 DOID:3541 cerebral ventricle cancer
+MONDO:0016710 medulloblastoma with extensive nodularity MONDO:0007959 DOID:3873 DOID:0050902 medulloblastoma
MONDO:0016718 choroid plexus carcinoma MONDO:0002681 DOID:5648 DOID:3540 choroid plexus cancer
MONDO:0016718 choroid plexus carcinoma MONDO:0004993 DOID:5648 DOID:305 carcinoma
MONDO:0016722 pineoblastoma MONDO:0003249 DOID:1664 DOID:5032 pineal gland cancer
@@ -6909,6 +6940,7 @@ MONDO:0017844 Sezary syndrome MONDO:0000607 DOID:8541 DOID:0060061 primary cutan
MONDO:0017845 spastic ataxia MONDO:0100309 DOID:0050952 DOID:0050951 hereditary ataxia
MONDO:0017853 hypersensitivity pneumonitis MONDO:0015925 DOID:841 DOID:3082 interstitial lung disease
MONDO:0017879 hantavirus pulmonary syndrome MONDO:0005275 DOID:14472 DOID:850 lung disorder
+MONDO:0017886 MIT family translocation renal cell carcinoma MONDO:0005086 DOID:0081413 DOID:4450 renal cell carcinoma
MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations MONDO:0018874 DOID:0081095 DOID:9119 acute myeloid leukemia
MONDO:0017906 amyloidosis cutis dyschromia MONDO:0015301 DOID:0080932 DOID:0050639 primary cutaneous amyloidosis
MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0002459 DOID:6688 DOID:2916 type IV hypersensitivity disease
@@ -6988,13 +7020,13 @@ MONDO:0018772 Joubert syndrome MONDO:0005308 DOID:0050777 DOID:0060340 ciliopath
MONDO:0018778 intermediate Charcot-Marie-Tooth disease MONDO:0015626 DOID:0050543 DOID:10595 Charcot-Marie-Tooth disease
MONDO:0018800 Kallmann syndrome MONDO:0018555 DOID:3614 DOID:0090070 hypogonadotropic hypogonadism
MONDO:0018805 bile duct cyst MONDO:0002887 DOID:899 DOID:4138 bile duct disorder
+MONDO:0018808 Caroli syndrome MONDO:0002254 DOID:0081394 DOID:225 syndromic disease
MONDO:0018824 pyoderma gangrenosum MONDO:0002922 DOID:8553 DOID:4223 pyoderma
MONDO:0018838 lissencephaly spectrum disorders MONDO:0002320 DOID:0050453 DOID:2490 congenital nervous system disorder
MONDO:0018841 congenital bile acid synthesis defect MONDO:0005523 DOID:0050674 DOID:1701 steroid inherited metabolic disorder
MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:0005440 DOID:7232 DOID:3308 embryonal carcinoma
MONDO:0018849 dentinogenesis imperfecta MONDO:0006999 DOID:4154 DOID:1091 tooth disorder
MONDO:0018852 achromatopsia MONDO:0001703 DOID:13911 DOID:13399 color vision disorder
-MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0002254 DOID:0050629 DOID:225 syndromic disease
MONDO:0018868 metachromatic leukodystrophy MONDO:0019255 DOID:10581 DOID:1927 sphingolipidosis
MONDO:0018874 acute myeloid leukemia MONDO:0004643 DOID:9119 DOID:8692 myeloid leukemia
MONDO:0018875 Li-Fraumeni syndrome MONDO:0000426 DOID:3012 DOID:0050736 autosomal dominant disease
@@ -7217,10 +7249,12 @@ MONDO:0020712 46,XY sex reversal 1 MONDO:0010765 DOID:0111778 DOID:14448 46,XY c
MONDO:0020713 pulmonary venoocclusive disease 1 MONDO:0009937 DOID:0081268 DOID:5453 pulmonary venoocclusive disease
MONDO:0020716 familial thyroid dyshormonogenesis 1 MONDO:0010132 DOID:0112185 DOID:0112183 familial thyroid dyshormonogenesis
MONDO:0020717 autosomal dominant wooly hair MONDO:0008686 DOID:0111573 DOID:0111572 isolated familial wooly hair disorder
+MONDO:0020730 carpal tunnel syndrome 1 MONDO:0007275 DOID:0070466 DOID:12169 carpal tunnel syndrome
MONDO:0020733 proximal symphalangism 1A MONDO:0008511 DOID:0080787 DOID:0050788 proximal symphalangism
MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 MONDO:0009049 DOID:0111623 DOID:0111622 Cushing syndrome due to macronodular adrenal hyperplasia
MONDO:0020738 multiple benign circumferential skin creases on limbs 1 MONDO:0007990 DOID:0112242 DOID:0112241 multiple benign circumferential skin creases on limbs
MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 MONDO:0010293 DOID:0081078 DOID:0081077 ectodermal dysplasia and immune deficiency
+MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant MONDO:0009945 DOID:0070519 DOID:0080768 pyridoxine-dependent epilepsy
MONDO:0020756 migraine, familial hemiplegic, 1 MONDO:0000700 DOID:0111181 DOID:0060178 familial hemiplegic migraine
MONDO:0020791 corneal dystrophy, Meesmann, 1 MONDO:0007379 DOID:0080670 DOID:0060451 Meesmann corneal dystrophy
MONDO:0020793 oculopharyngodistal myopathy 1 MONDO:0025193 DOID:0081297 DOID:0081296 oculopharyngodistal myopathy
@@ -7285,6 +7319,7 @@ MONDO:0024387 benign ovarian sex cord-stromal tumor MONDO:0024988 DOID:0080370 D
MONDO:0024463 ovarian dysgenesis 1 MONDO:0009299 DOID:0080493 DOID:14450 46 XX gonadal dysgenesis
MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0005154 DOID:916 DOID:409 liver disorder
MONDO:0024508 epilepsy, hot water, 1 MONDO:0013229 DOID:0081106 DOID:0081104 hot water reflex epilepsy
+MONDO:0024517 schwannomatosis 1 MONDO:0008075 DOID:0070480 DOID:3204 schwannomatosis
MONDO:0024523 aortic valve disease 1 MONDO:0007194 DOID:0080333 DOID:0080332 familial bicuspid aortic valve
MONDO:0024536 glucocorticoid deficiency 1 MONDO:0008733 DOID:0080621 DOID:0080620 familial glucocorticoid deficiency
MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0008891 DOID:0080785 DOID:0050694 riboflavin transporter deficiency
@@ -7295,6 +7330,7 @@ MONDO:0024552 linear skin defects with multiple congenital anomalies 1 MONDO:001
MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0000863 DOID:0111185 DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia
MONDO:0024554 D-2-hydroxyglutaric aciduria 1 MONDO:0010924 DOID:0111351 DOID:0050575 D-2-hydroxyglutaric aciduria
MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 MONDO:0011391 DOID:0080316 DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts
+MONDO:0024556 epilepsy, familial focal, with variable foci 1 MONDO:0020310 DOID:0081421 DOID:0081420 familial focal epilepsy with variable foci
MONDO:0024566 febrile seizures, familial, 11 MONDO:0000032 DOID:0111308 DOID:0111297 febrile seizures, familial
MONDO:0024568 infantile liver failure syndrome 1 MONDO:0000023 DOID:0080717 DOID:0080716 infantile liver failure
MONDO:0024573 familial hypertrophic cardiomyopathy MONDO:0005045 DOID:0080326 DOID:11984 hypertrophic cardiomyopathy
@@ -7343,9 +7379,11 @@ MONDO:0030008 combined oxidative phosphorylation deficiency 42 MONDO:0000732 DOI
MONDO:0030009 alopecia-intellectual disability syndrome 4 MONDO:0008756 DOID:0080950 DOID:0080627 alopecia - intellectual disability syndrome
MONDO:0030017 combined oxidative phosphorylation deficiency 43 MONDO:0000732 DOID:0112116 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0030019 anauxetic dysplasia 3 MONDO:0011773 DOID:0080963 DOID:0080942 anauxetic dysplasia
+MONDO:0030020 combined oxidative phosphorylation deficiency 44 MONDO:0000732 DOID:0070424 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0030027 tremor, hereditary essential, 6 MONDO:0003233 DOID:0081295 DOID:4990 essential tremor
MONDO:0030031 lissencephaly 10 MONDO:0018838 DOID:0112229 DOID:0050453 lissencephaly spectrum disorders
MONDO:0030054 developmental and epileptic encephalopathy, 86 MONDO:0100062 DOID:0112220 DOID:0112202 developmental and epileptic encephalopathy
+MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 MONDO:0015363 DOID:0081427 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive
MONDO:0030058 hearing loss, autosomal dominant 77 MONDO:0019587 DOID:0112168 DOID:0050564 autosomal dominant nonsyndromic hearing loss
MONDO:0030059 developmental and epileptic encephalopathy, 87 MONDO:0100062 DOID:0112221 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 MONDO:0018305 DOID:0070368 DOID:3265 chronic granulomatous disease
@@ -7358,9 +7396,14 @@ MONDO:0030263 leukodystrophy, hypomyelinating, 21 MONDO:0019046 DOID:0070407 DOI
MONDO:0030268 developmental and epileptic encephalopathy 6B MONDO:0100062 DOID:0070379 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0030281 arthrogryposis multiplex congenita 6 MONDO:0015168 DOID:0070336 DOID:0080954 arthrogryposis multiplex congenita
MONDO:0030307 spermatogenic failure 55 MONDO:0004983 DOID:0112337 DOID:0111910 spermatogenic failure
+MONDO:0030311 combined oxidative phosphorylation deficiency 52 MONDO:0000732 DOID:0070425 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0030312 spinocerebellar ataxia, autosomal recessive 29 MONDO:0015244 DOID:0070410 DOID:0050950 autosomal recessive cerebellar ataxia
MONDO:0030318 spinocerebellar ataxia, autosomal recessive 30 MONDO:0015244 DOID:0070411 DOID:0050950 autosomal recessive cerebellar ataxia
MONDO:0030323 spinocerebellar ataxia, autosomal recessive 31 MONDO:0015244 DOID:0070412 DOID:0050950 autosomal recessive cerebellar ataxia
+MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) MONDO:0018158 DOID:0070447 DOID:0070329 mitochondrial DNA depletion syndrome
+MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic MONDO:0001347 DOID:0060917 DOID:11727 facioscapulohumeral muscular dystrophy
+MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic MONDO:0001347 DOID:0060918 DOID:11727 facioscapulohumeral muscular dystrophy
+MONDO:0030378 combined oxidative phosphorylation deficiency 53 MONDO:0000732 DOID:0070426 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0030430 spermatogenic failure 56 MONDO:0004983 DOID:0112336 DOID:0111910 spermatogenic failure
MONDO:0030438 pontocerebellar hypoplasia, type 16 MONDO:0020135 DOID:0112333 DOID:0060264 pontocerebellar hypoplasia
MONDO:0030439 spermatogenic failure 57 MONDO:0004983 DOID:0112338 DOID:0111910 spermatogenic failure
@@ -7379,10 +7422,12 @@ MONDO:0030522 spermatogenic failure 64 MONDO:0004983 DOID:0112353 DOID:0111910 s
MONDO:0030529 agammaglobulinemia 10, autosomal dominant MONDO:0015977 DOID:0081142 DOID:2583 agammaglobulinemia
MONDO:0030531 spermatogenic failure 65 MONDO:0004983 DOID:0112354 DOID:0111910 spermatogenic failure
MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 MONDO:0019502 DOID:0081233 DOID:0060308 autosomal recessive non-syndromic intellectual disability
+MONDO:0030543 combined oxidative phosphorylation deficiency 54 MONDO:0000732 DOID:0070427 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0030553 acromesomelic dysplasia 4 MONDO:0019696 DOID:0081238 DOID:0080049 acromesomelic dysplasia
MONDO:0030602 Klebsiella pneumonia MONDO:0004652 DOID:13272 DOID:874 bacterial pneumonia
MONDO:0030674 Teebi hypertelorism syndrome 2 MONDO:0030639 DOID:0081074 DOID:0081073 Teebi hypertelorism syndrome
MONDO:0030695 developmental and epileptic encephalopathy 100 MONDO:0100062 DOID:0070386 DOID:0112202 developmental and epileptic encephalopathy
+MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) MONDO:0018158 DOID:0070451 DOID:0070329 mitochondrial DNA depletion syndrome
MONDO:0030701 autoimmune cardiomyopathy MONDO:0000603 DOID:0040095 DOID:0060051 autoimmune disorder of cardiovascular system
MONDO:0030702 autoimmune atherosclerosis MONDO:0000603 DOID:0040096 DOID:0060051 autoimmune disorder of cardiovascular system
MONDO:0030703 autoimmune vasculitis MONDO:0000603 DOID:0040097 DOID:0060051 autoimmune disorder of cardiovascular system
@@ -7397,6 +7442,7 @@ MONDO:0030861 osteogenesis imperfecta, type 21 MONDO:0019019 DOID:0112201 DOID:1
MONDO:0030868 spermatogenic failure 49 MONDO:0004983 DOID:0112271 DOID:0111910 spermatogenic failure
MONDO:0030869 spermatogenic failures 50 MONDO:0004983 DOID:0112272 DOID:0111910 spermatogenic failure
MONDO:0030881 developmental and epileptic encephalopathy 102 MONDO:0100062 DOID:0070388 DOID:0112202 developmental and epileptic encephalopathy
+MONDO:0030883 carpal tunnel syndrome 2 MONDO:0007275 DOID:0070467 DOID:12169 carpal tunnel syndrome
MONDO:0030895 nephrotic syndrome, type 22 MONDO:0002350 DOID:0112268 DOID:2590 familial nephrotic syndrome
MONDO:0030906 Trichomonas tenax infectious disease MONDO:0002154 DOID:0050270 DOID:1947 trichomoniasis
MONDO:0030907 intellectual disability, X-linked 106 MONDO:0019181 DOID:0080240 DOID:0050776 non-syndromic X-linked intellectual disability
@@ -7414,16 +7460,20 @@ MONDO:0030919 intellectual disability, autosomal dominant 53 MONDO:0015802 DOID:
MONDO:0030920 intellectual disability, autosomal dominant 54 MONDO:0015802 DOID:0080230 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures MONDO:0015802 DOID:0080227 DOID:0060307 autosomal dominant non-syndromic intellectual disability
MONDO:0030922 intellectual disability, autosomal dominant 56 MONDO:0015802 DOID:0080226 DOID:0060307 autosomal dominant non-syndromic intellectual disability
+MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 MONDO:0009726 DOID:0060919 DOID:0060913 proteosome-associated autoinflammatory syndrome
MONDO:0030926 spermatogenic failure 51 MONDO:0004983 DOID:0112273 DOID:0111910 spermatogenic failure
MONDO:0030927 myofibrillar myopathy 11 MONDO:0018943 DOID:0081338 DOID:0080307 myofibrillar myopathy
+MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 MONDO:0009726 DOID:0060915 DOID:0060913 proteosome-associated autoinflammatory syndrome
MONDO:0030938 spermatogenic failure 52 MONDO:0004983 DOID:0112270 DOID:0111910 spermatogenic failure
MONDO:0030957 developmental and epileptic encephalopathy 103 MONDO:0100062 DOID:0070389 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0030962 nephrotic syndrome, type 23 MONDO:0002350 DOID:0112266 DOID:2590 familial nephrotic syndrome
MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 MONDO:0019502 DOID:0081235 DOID:0060308 autosomal recessive non-syndromic intellectual disability
+MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 MONDO:0015363 DOID:0081426 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive
MONDO:0030989 spermatogenic failure 53 MONDO:0004983 DOID:0112279 DOID:0111910 spermatogenic failure
MONDO:0031012 autoimmune uveitis MONDO:0000587 DOID:0040088 DOID:0060030 autoimmune disease of ear, nose and throat
MONDO:0031013 autoimmune optic neuritis MONDO:0000590 DOID:0040089 DOID:0060033 autoimmune disorder of peripheral nervous system
MONDO:0031014 autoimmune gastritis MONDO:0000588 DOID:0040090 DOID:0060031 autoimmune disorder of gastrointestinal tract
+MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0019064 DOID:0070456 DOID:2476 hereditary spastic paraplegia
MONDO:0031021 developmental and epileptic encephalopathy 104 MONDO:0100062 DOID:0070390 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism MONDO:0100062 DOID:0070391 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 MONDO:0019502 DOID:0081236 DOID:0060308 autosomal recessive non-syndromic intellectual disability
@@ -7522,16 +7572,19 @@ MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 MONDO:001
MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type MONDO:0015168 DOID:0080979 DOID:0080954 arthrogryposis multiplex congenita
MONDO:0032783 aortic valve disease 3 MONDO:0007194 DOID:0080977 DOID:0080332 familial bicuspid aortic valve
MONDO:0032786 Noonan syndrome 11 MONDO:0018997 DOID:0112169 DOID:3490 Noonan syndrome
+MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis MONDO:0016296 DOID:0081398 DOID:4621 holoprosencephaly
MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 MONDO:0019502 DOID:0081232 DOID:0060308 autosomal recessive non-syndromic intellectual disability
MONDO:0032791 Coffin-Siris syndrome 10 MONDO:0015452 DOID:0112371 DOID:1925 Coffin-Siris syndrome
MONDO:0032794 leber congenital amaurosis 19 MONDO:0018998 DOID:0081169 DOID:14791 Leber congenital amaurosis
MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:0018037 DOID:0080596 DOID:0080545 hyper-IgE syndrome
MONDO:0032797 myopathy, congenital, with tremor MONDO:0019952 DOID:0081348 DOID:0081337 congenital myopathy
+MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:0018158 DOID:0070446 DOID:0070329 mitochondrial DNA depletion syndrome
MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 MONDO:0017851 DOID:0080766 DOID:0050467 erythrokeratodermia variabilis
MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type MONDO:0019287 DOID:0111651 DOID:2121 ectodermal dysplasia syndrome
MONDO:0032808 developmental and epileptic encephalopathy, 77 MONDO:0100247 DOID:0112213 DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome
MONDO:0032812 developmental and epileptic encephalopathy, 78 MONDO:0100062 DOID:0112214 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0032813 developmental and epileptic encephalopathy, 79 MONDO:0100062 DOID:0112215 DOID:0112202 developmental and epileptic encephalopathy
+MONDO:0032815 mitochondrial DNA depletion syndrome 17 MONDO:0018158 DOID:0070448 DOID:0070329 mitochondrial DNA depletion syndrome
MONDO:0032821 myopathy, congenital, progressive, with scoliosis MONDO:0019952 DOID:0081351 DOID:0081337 congenital myopathy
MONDO:0032822 developmental and epileptic encephalopathy, 80 MONDO:0100062 DOID:0112216 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0032826 nephrotic syndrome, type 21 MONDO:0002350 DOID:0112267 DOID:2590 familial nephrotic syndrome
@@ -7567,6 +7620,7 @@ MONDO:0032917 hearing loss, autosomal dominant 76 MONDO:0019587 DOID:0112167 DOI
MONDO:0032918 developmental and epileptic encephalopathy, 84 MONDO:0100062 DOID:0112219 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 MONDO:0015244 DOID:0070409 DOID:0050950 autosomal recessive cerebellar ataxia
MONDO:0032924 ciliary dyskinesia, primary, 45 MONDO:0016575 DOID:0111857 DOID:9562 primary ciliary dyskinesia
+MONDO:0032932 mitochondrial DNA depletion syndrome 18 MONDO:0018158 DOID:0070449 DOID:0070329 mitochondrial DNA depletion syndrome
MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures MONDO:0019952 DOID:0081343 DOID:0081337 congenital myopathy
MONDO:0032937 myopathy, congenital proximal, with minicore lesions MONDO:0019952 DOID:0081344 DOID:0081337 congenital myopathy
MONDO:0032940 retinitis pigmentosa 88 MONDO:0019200 DOID:0112145 DOID:10584 retinitis pigmentosa
@@ -7637,6 +7691,7 @@ MONDO:0033493 fibromatosis, gingival, 5 MONDO:0016070 DOID:0080280 DOID:0060466
MONDO:0033533 combined oxidative phosphorylation deficiency 45 MONDO:0000732 DOID:0112113 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0033534 combined oxidative phosphorylation deficiency 46 MONDO:0000732 DOID:0112115 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0033537 combined oxidative phosphorylation deficiency 47 MONDO:0000732 DOID:0112114 DOID:0060286 combined oxidative phosphorylation deficiency
+MONDO:0033545 mitochondrial DNA depletion syndrome 19 MONDO:0018158 DOID:0070450 DOID:0070329 mitochondrial DNA depletion syndrome
MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0019952 DOID:0081349 DOID:0081337 congenital myopathy
MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 MONDO:0000172 DOID:0112376 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B
MONDO:0033563 retinitis pigmentosa 90 MONDO:0019200 DOID:0112147 DOID:10584 retinitis pigmentosa
@@ -7686,6 +7741,7 @@ MONDO:0044923 acute myeloid leukemia with mutated NPM1 MONDO:0018874 DOID:008108
MONDO:0045059 cribriform carcinoma of breast MONDO:0004989 DOID:5675 DOID:3459 breast carcinoma
MONDO:0049222 intellectual disability, X-linked 107 MONDO:0019181 DOID:0112054 DOID:0050776 non-syndromic X-linked intellectual disability
MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0005501 DOID:0070269 DOID:0050571 congenital disorder of glycosylation type II
+MONDO:0054560 anauxetic dysplasia 1 MONDO:0011773 DOID:0050640 DOID:0080942 anauxetic dysplasia
MONDO:0054561 anauxetic dysplasia 2 MONDO:0011773 DOID:0080962 DOID:0080942 anauxetic dysplasia
MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 MONDO:0011899 DOID:0080693 DOID:0080691 Noonan syndrome-like disorder with loose anagen hair
MONDO:0054615 spermatogenic failure 18 MONDO:0004983 DOID:0070165 DOID:0111910 spermatogenic failure
@@ -7696,6 +7752,8 @@ MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:0020135 DOID:0112324 DOI
MONDO:0054677 combined oxidative phosphorylation deficiency 33 MONDO:0000732 DOID:0111495 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0054680 epiphyseal dysplasia, multiple, 7 MONDO:0016648 DOID:0070302 DOID:12721 multiple epiphyseal dysplasia
MONDO:0054691 immunodeficiency, common variable, 14 MONDO:0015517 DOID:0081156 DOID:12177 common variable immunodeficiency
+MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 MONDO:0009726 DOID:0060916 DOID:0060913 proteosome-associated autoinflammatory syndrome
+MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 MONDO:0009726 DOID:0060914 DOID:0060913 proteosome-associated autoinflammatory syndrome
MONDO:0054701 Kleefstra syndrome 2 MONDO:0012455 DOID:0080598 DOID:0080597 Kleefstra syndrome
MONDO:0054716 microcephaly 19, primary, autosomal recessive MONDO:0016660 DOID:0070281 DOID:0070296 autosomal recessive primary microcephaly
MONDO:0054722 geleophysic dysplasia 3 MONDO:0000127 DOID:0111727 DOID:0111724 geleophysic dysplasia
@@ -7716,6 +7774,7 @@ MONDO:0054740 blepharocheilodontic syndrome 1 MONDO:0007339 DOID:0080345 DOID:00
MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0000732 DOID:0111497 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0054742 combined oxidative phosphorylation deficiency 35 MONDO:0000732 DOID:0111464 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0054752 multiple synostoses syndrome 4 MONDO:0017923 DOID:0081320 DOID:0050794 multiple synostoses syndrome
+MONDO:0054776 epilepsy, familial focal, with variable foci 4 MONDO:0020310 DOID:0081424 DOID:0081420 familial focal epilepsy with variable foci
MONDO:0054781 combined oxidative phosphorylation deficiency 36 MONDO:0000732 DOID:0111482 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0054782 leukodystrophy, hypomyelinating, 15 MONDO:0019046 DOID:0070398 DOID:0060786 leukodystrophy
MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0017338 DOID:0070332 DOID:0070330 fatal multiple mitochondrial dysfunctions syndrome
@@ -7729,12 +7788,14 @@ MONDO:0054831 Coffin-Siris syndrome 7 MONDO:0015452 DOID:0112369 DOID:1925 Coffi
MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 MONDO:0020364 DOID:0080669 DOID:0060457 posterior polymorphous corneal dystrophy
MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0000426 DOID:0111558 DOID:0050736 autosomal dominant disease
MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0018993 DOID:0111558 DOID:0050539 Charcot-Marie-Tooth disease type 2
+MONDO:0054835 classic dopamine transporter deficiency syndrome MONDO:0700117 DOID:0070489 DOID:0070487 SLC6A3-related dopamine transporter deficiency syndrome
MONDO:0054843 ciliary dyskinesia, primary, 38 MONDO:0016575 DOID:0111852 DOID:9562 primary ciliary dyskinesia
MONDO:0054845 developmental and epileptic encephalopathy, 66 MONDO:0100062 DOID:0080446 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0054846 epilepsy, familial adult myoclonic, 6 MONDO:0000160 DOID:0111696 DOID:0111689 epilepsy, familial adult myoclonic
MONDO:0054847 epilepsy, familial adult myoclonic, 7 MONDO:0000160 DOID:0111694 DOID:0111689 epilepsy, familial adult myoclonic
MONDO:0054849 inflammatory bowel disease 29 MONDO:0005265 DOID:0112155 DOID:0050589 inflammatory bowel disease
MONDO:0054850 ovarian dysgenesis 6 MONDO:0009299 DOID:0080498 DOID:14450 46 XX gonadal dysgenesis
+MONDO:0054852 peeling skin syndrome 6 MONDO:0019347 DOID:0070525 DOID:0060283 peeling skin syndrome
MONDO:0054860 hearing loss, autosomal recessive 110 MONDO:0019588 DOID:0111644 DOID:0050565 hearing loss, autosomal recessive
MONDO:0054861 intellectual disability, autosomal recessive 63 MONDO:0019502 DOID:0081224 DOID:0060308 autosomal recessive non-syndromic intellectual disability
MONDO:0056795 X-linked spermatogenic failure 1 MONDO:0010595 DOID:0070189 DOID:0050457 Sertoli cell-only syndrome
@@ -7765,6 +7826,7 @@ MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0016391 DOID:0060639 DO
MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0006025 DOID:0080836 DOID:0050737 autosomal recessive disease
MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0020605 DOID:0111821 DOID:0080012 X-linked recessive disease
MONDO:0100216 DICER1-related tumor predisposition MONDO:0002254 DOID:0081063 DOID:225 syndromic disease
+MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 MONDO:0031632 DOID:0070478 DOID:0070476 developmental delay with short stature, dysmorphic facial features, and sparse hair
MONDO:0100218 arthrogryposis multiplex congenita 5 MONDO:0015168 DOID:0080981 DOID:0080954 arthrogryposis multiplex congenita
MONDO:0100223 mitochondrial complex I deficiency, nuclear type MONDO:0100133 DOID:0112065 DOID:0060536 mitochondrial complex I deficiency
MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 MONDO:0100223 DOID:0112074 DOID:0112065 mitochondrial complex I deficiency, nuclear type
@@ -7794,6 +7856,9 @@ MONDO:0100452 RPE65-related dominant retinopathy MONDO:0000426 DOID:0112144 DOID
MONDO:0100459 azoospermia MONDO:0005372 DOID:14227 DOID:12336 male infertility
MONDO:0100510 spondyloepimetaphyseal dysplasia MONDO:0005516 DOID:0080027 DOID:2256 osteochondrodysplasia
MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0004947 DOID:0080649 DOID:0080630 B-cell acute lymphoblastic leukemia
+MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0005395 DOID:0070487 DOID:480 movement disorder
+MONDO:0700200 atypical dopamine transporter deficiency syndrome MONDO:0700117 DOID:0070488 DOID:0070487 SLC6A3-related dopamine transporter deficiency syndrome
+MONDO:0700251 orofacial cleft 7 MONDO:0000358 DOID:0080400 DOID:0050567 orofacial cleft
MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0030639 DOID:0080698 DOID:0081073 Teebi hypertelorism syndrome
MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0001292 DOID:0060731 DOID:11465 autonomic nervous system disorder
MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 DOID:0080523 DOID:10579 leukodystrophy
@@ -7803,6 +7868,7 @@ MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019214 DOID:006072
MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0015780 DOID:0070020 DOID:2729 dyskeratosis congenita
MONDO:0800372 Joubert syndrome 29 MONDO:0018772 DOID:0080276 DOID:0050777 Joubert syndrome
MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 DOID:0081124 DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
+MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0031632 DOID:0070477 DOID:0070476 developmental delay with short stature, dysmorphic facial features, and sparse hair
MONDO:0800448 leukoencephalopathy with vanishing white matter MONDO:0019046 DOID:0060868 DOID:10579 leukodystrophy
MONDO:0800449 lysosomal acid lipase deficiency MONDO:0019245 DOID:0080217 DOID:9455 lysosomal lipid storage disorder
MONDO:0850092 post-cardiac arrest syndrome MONDO:0002254 DOID:0070306 DOID:225 syndromic disease
@@ -7860,6 +7926,7 @@ MONDO:0850289 human betaherpesvirus 5 infectious disease MONDO:0005108 DOID:0080
MONDO:0850292 subjective cognitive decline MONDO:0002039 DOID:0080831 DOID:1561 cognitive disorder
MONDO:0850295 acquired laryngomalacia MONDO:0004382 DOID:0080834 DOID:786 laryngeal disorder
MONDO:0850301 pemphigoid MONDO:0019337 DOID:0080841 DOID:8502 autoimmune bullous skin disease
+MONDO:0850302 intracranial meningioma MONDO:0016642 DOID:0060106 DOID:3565 meningioma
MONDO:0850302 intracranial meningioma MONDO:0016642 DOID:0080842 DOID:3565 meningioma
MONDO:0850303 supratentorial meningioma MONDO:0016642 DOID:0080843 DOID:3565 meningioma
MONDO:0850306 latent autoimmune diabetes in adults MONDO:0005147 DOID:0080846 DOID:9744 type 1 diabetes mellitus
@@ -7933,15 +8000,22 @@ MONDO:0858966 central nervous system tumor with bcor internal tandem duplication
MONDO:0858967 primary intracranial sarcoma, DICER1-mutant MONDO:0002216 DOID:0081316 DOID:2132 brain sarcoma
MONDO:0858974 breast implant illness MONDO:0002254 DOID:0081323 DOID:225 syndromic disease
MONDO:0858974 breast implant illness MONDO:0002657 DOID:0081323 DOID:3463 breast disorder
+MONDO:0859228 combined oxidative phosphorylation deficiency 55 MONDO:0000732 DOID:0070428 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0859234 agammaglobulinemia 8b, autosomal recessive MONDO:0015977 DOID:0081143 DOID:2583 agammaglobulinemia
MONDO:0859242 leukodystrophy, hypomyelinating, 24 MONDO:0019046 DOID:0070406 DOID:0060786 leukodystrophy
MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 MONDO:0015244 DOID:0070413 DOID:0050950 autosomal recessive cerebellar ataxia
+MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 MONDO:0015363 DOID:0081425 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive
+MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 MONDO:0015362 DOID:0081399 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant
+MONDO:0859309 spastic paraplegia 88, autosomal dominant MONDO:0019064 DOID:0070457 DOID:2476 hereditary spastic paraplegia
MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0100062 DOID:0070394 DOID:0112202 developmental and epileptic encephalopathy
+MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0000732 DOID:0070429 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0100062 DOID:0070378 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0100062 DOID:0070395 DOID:0112202 developmental and epileptic encephalopathy
MONDO:0859335 congenital myopathy 15 MONDO:0019952 DOID:0081347 DOID:0081337 congenital myopathy
+MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 DOID:0070430 DOID:0060286 combined oxidative phosphorylation deficiency
MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 DOID:0070414 DOID:0050950 autosomal recessive cerebellar ataxia
MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 DOID:0081328 DOID:13317 hyperinsulinemic hypoglycemia
+MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 DOID:0070455 DOID:2476 hereditary spastic paraplegia
MONDO:0859378 leukodystrophy, hypomyelinating, 25 MONDO:0019046 DOID:0070401 DOID:0060786 leukodystrophy
MONDO:0859514 congenital myopathy 18 MONDO:0019952 DOID:0081350 DOID:0081337 congenital myopathy
MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0019952 DOID:0081345 DOID:0081337 congenital myopathy
@@ -7949,6 +8023,9 @@ MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive MOND
MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0019046 DOID:0070403 DOID:0060786 leukodystrophy
MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0019952 DOID:0081340 DOID:0081337 congenital myopathy
MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 MONDO:0031329 DOID:0081125 DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
+MONDO:0859568 macular dystrophy, retinal, 4 MONDO:0031166 DOID:0070441 DOID:0070438 macular dystrophy, retinal
+MONDO:0859577 lacrimoauriculodentodigital syndrome 2 MONDO:0007872 DOID:0081371 DOID:0081370 LADD syndrome
+MONDO:0859578 lacrimoauriculodentodigital syndrome 3 MONDO:0007872 DOID:0081372 DOID:0081370 LADD syndrome
MONDO:0859588 keratosis pilaris atrophicans faciei MONDO:0018855 DOID:0080752 DOID:0080751 keratosis pilaris atrophicans
MONDO:0859591 childhood low-grade glioma MONDO:0021637 DOID:0080830 DOID:0080829 low grade glioma
MONDO:0859592 IDH-mutant and 1p/19q-codeleted oligodendroglioma MONDO:0016696 DOID:0080882 DOID:7154 anaplastic oligodendroglioma
@@ -7961,7 +8038,67 @@ MONDO:0859690 malignant cystadenoma MONDO:0850125 DOID:60004 DOID:0080364 malign
MONDO:0859747 grade I lymphomatoid granulomatosis MONDO:0019466 DOID:0081308 DOID:0081307 lymphomatoid granulomatosis
MONDO:0859748 grade II lymphomatoid granulomatosis MONDO:0019466 DOID:0081309 DOID:0081307 lymphomatoid granulomatosis
MONDO:0859749 grade III lymphomatoid granulomatosis MONDO:0019466 DOID:0081310 DOID:0081307 lymphomatoid granulomatosis
+MONDO:0956962 benign teratoma MONDO:0850144 DOID:0080602 DOID:0080601 germ cell benign neoplasm
+MONDO:0956964 medulloblastoma SHH activated and TP53 mutant MONDO:0850197 DOID:0080704 DOID:0080703 medulloblastoma SHH activated
+MONDO:0956965 medulloblastoma SHH activated and TP53 wild-type MONDO:0850197 DOID:0080705 DOID:0080703 medulloblastoma SHH activated
+MONDO:0956966 medulloblastoma non-WNT/non-SHH group 3 MONDO:0850198 DOID:0080707 DOID:0080706 medulloblastoma non-WNT/non-SHH
+MONDO:0956967 medulloblastoma non-WNT/non-SHH group 4 MONDO:0850198 DOID:0080708 DOID:0080706 medulloblastoma non-WNT/non-SHH
+MONDO:0956969 chronic inducible urticaria MONDO:0850230 DOID:0080748 DOID:0080747 chronic urticaria
+MONDO:0956971 intermittent asthma MONDO:0850282 DOID:0080812 DOID:0080809 chronic asthma
+MONDO:0956975 T2-high asthma MONDO:0850282 DOID:0080817 DOID:0080809 chronic asthma
+MONDO:0956976 T2-low asthma MONDO:0850282 DOID:0080818 DOID:0080809 chronic asthma
+MONDO:0956977 near-fatal asthma MONDO:0850283 DOID:0080823 DOID:0080810 acute asthma
+MONDO:0956979 nocturnal asthma MONDO:0850282 DOID:0080826 DOID:0080809 chronic asthma
+MONDO:0956980 vascular parkinsonism MONDO:0021095 DOID:0080856 DOID:0080855 parkinsonian disorder
+MONDO:0956981 astrocytoma, IDH-mutant, grade 4 MONDO:0850332 DOID:0080877 DOID:0080875 IDH-mutant anaplastic astrocytoma
+MONDO:0956983 pleomorphic xanthoastrocytoma BRAF mutant MONDO:0850312 DOID:0080881 DOID:0080854 anaplastic pleomorphic xanthoastrocytoma
+MONDO:0956984 YAP1-MAMLD1 fusion-positive supratentorial ependymoma MONDO:0850340 DOID:0080891 DOID:0080890 supratentorial ependymoma
+MONDO:0956987 EZB-MYC+ diffuse large B-cell lymphoma MONDO:0850469 DOID:0081070 DOID:0081065 EZB diffuse large B-cell lymphoma
+MONDO:0956988 EZB-MYC- diffuse large B-cell lymphoma MONDO:0850469 DOID:0081071 DOID:0081065 EZB diffuse large B-cell lymphoma
+MONDO:0956989 CIC-rearranged sarcoma MONDO:0858921 DOID:0081250 DOID:0081249 EWSR1-negative small round cell tumor
+MONDO:0956990 supratentorial ependymoma, ZFTA fusion–positive MONDO:0850340 DOID:0081252 DOID:0080890 supratentorial ependymoma
+MONDO:0956991 supratentorial ependymoma, YAP1 fusion–positive MONDO:0850340 DOID:0081253 DOID:0080890 supratentorial ependymoma
+MONDO:0956992 posterior fossa group A ependymoma MONDO:0850339 DOID:0081254 DOID:0080889 posterior fossa ependymoma
+MONDO:0956993 posterior fossa group B ependymoma MONDO:0850339 DOID:0081255 DOID:0080889 posterior fossa ependymoma
+MONDO:0956994 astrocytoma, IDH-mutant, grade 2 MONDO:0850332 DOID:0081256 DOID:0080875 IDH-mutant anaplastic astrocytoma
+MONDO:0956995 astrocytoma, IDH-mutant, grade 3 MONDO:0850332 DOID:0081257 DOID:0080875 IDH-mutant anaplastic astrocytoma
+MONDO:0956996 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 MONDO:0859592 DOID:0081281 DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma
+MONDO:0956997 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 MONDO:0859592 DOID:0081282 DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma
+MONDO:0957203 intellectual developmental disorder, X-linked 111 MONDO:0019181 DOID:0060929 DOID:0050776 non-syndromic X-linked intellectual disability
+MONDO:0957215 congenital myopathy 20 MONDO:0019952 DOID:0081352 DOID:0081337 congenital myopathy
+MONDO:0957221 spastic paraplegia 70, autosomal recessive MONDO:0019064 DOID:0070454 DOID:2476 hereditary spastic paraplegia
+MONDO:0957224 congenital myopathy 21 with early respiratory failure MONDO:0019952 DOID:0081353 DOID:0081337 congenital myopathy
+MONDO:0957247 congenital myopathy 22A, classic MONDO:0019952 DOID:0081354 DOID:0081337 congenital myopathy
+MONDO:0957248 developmental and epileptic encephalopathy 31B MONDO:0100062 DOID:0070376 DOID:0112202 developmental and epileptic encephalopathy
+MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 MONDO:0014471 DOID:0070464 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency
+MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0019952 DOID:0081355 DOID:0081337 congenital myopathy
+MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0019064 DOID:0070458 DOID:2476 hereditary spastic paraplegia
+MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0018958 DOID:0081374 DOID:3191 nemaline myopathy
+MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0018958 DOID:0081375 DOID:3191 nemaline myopathy
+MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 DOID:0070459 DOID:2476 hereditary spastic paraplegia
+MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 DOID:0070460 DOID:2476 hereditary spastic paraplegia
+MONDO:0957519 diffuse gastric cancer MONDO:0001056 DOID:0080763 DOID:10534 gastric cancer
+MONDO:0957524 COX deficiency, benign infantile mitochondrial myopathy MONDO:0009068 DOID:0081377 DOID:3762 cytochrome-c oxidase deficiency disease
+MONDO:0957870 leukoencephalopathy with vanishing white matter 2 MONDO:0800448 DOID:0070373 DOID:0060868 leukoencephalopathy with vanishing white matter
+MONDO:0957871 leukoencephalopathy with vanishing white matter 3 MONDO:0800448 DOID:0070372 DOID:0060868 leukoencephalopathy with vanishing white matter
+MONDO:0957872 leukoencephalopathy with vanishing white matter 4 MONDO:0800448 DOID:0070371 DOID:0060868 leukoencephalopathy with vanishing white matter
+MONDO:0957873 leukoencephalopathy with vanishing white matter 5 MONDO:0800448 DOID:0070367 DOID:0060868 leukoencephalopathy with vanishing white matter
+MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 MONDO:0015363 DOID:0081428 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive
+MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 MONDO:0015362 DOID:0081400 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant
+MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 MONDO:0015363 DOID:0081429 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive
+MONDO:0957896 metabolic dysfunction and alcohol associated liver disease MONDO:0004790 DOID:0070508 DOID:9452 fatty liver disease
+MONDO:0957928 otosclerosis 11 MONDO:0005349 DOID:0060928 DOID:12185 otosclerosis
+MONDO:0958150 Borrelia miyamotoi disease MONDO:0000314 DOID:0070527 DOID:0050338 primary bacterial infectious disease
+MONDO:0958151 cepacia syndrome MONDO:0000316 DOID:0070528 DOID:0050340 opportunistic bacterial infectious disease
+MONDO:0958159 sarcoma with BCOR genetic alterations MONDO:0006974 DOID:0081402 DOID:3098 small cell sarcoma
+MONDO:0958160 round cell sarcoma with EWSR1-non-ETS fusion MONDO:0006974 DOID:0081406 DOID:3098 small cell sarcoma
+MONDO:0958161 B acute lymphoblastic leukemia with PAX5 P80R mutation MONDO:0004947 DOID:0081411 DOID:0080630 B-cell acute lymphoblastic leukemia
+MONDO:0958162 B acute lymphoblastic leukemia with DUX4 rearrangement MONDO:0004947 DOID:0081412 DOID:0080630 B-cell acute lymphoblastic leukemia
+MONDO:0958164 poorly differentiated chordoma MONDO:0008978 DOID:0081417 DOID:3302 chordoma
+MONDO:0958165 anaplastic sarcoma of the kidney MONDO:0002930 DOID:0081418 DOID:4242 kidney sarcoma
MONDO:0958180 prolonged electroretinal response suppression 1 MONDO:0012033 DOID:0070363 DOID:0050335 bradyopsia
+MONDO:0958189 basal cell nevus syndrome 2 MONDO:0007187 DOID:0070366 DOID:2512 nevoid basal cell carcinoma syndrome
+MONDO:0958190 prolonged electroretinal response suppression 2 MONDO:0012033 DOID:0070364 DOID:0050335 bradyopsia
MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0000858 DOID:0080679 DOID:0080072 neuronal intestinal dysplasia
MONDO:8000018 benign paroxysmal positional vertigo MONDO:0004900 DOID:13941 DOID:9847 peripheral vertigo
MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD MONDO:0017979 DOID:0110119 DOID:6688 autoimmune lymphoproliferative syndrome
diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv
index 2a1bd609..0f19e504 100644
--- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv
+++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv
@@ -10,4 +10,5 @@ DOID:5209 obsolete benign struma ovarii True False True True
DOID:955 obsolete benign neurilemmoma True False True True
DOID:7922 obsolete benign mediastinal neurilemmoma True False True True
DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C True False True True
+DOID:0050549 obsolete Saldino-Noonan syndrome True False True True
DOID:0050867 obsolete Jensen syndrome True False True True
diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv
index 3f19c886..51c1adbf 100644
--- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv
+++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv
@@ -1,2 +1,2 @@
n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1
-12 0.0009
+13 0.0009
diff --git a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv
index 75194a02..40941246 100644
--- a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv
+++ b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv
@@ -152,12 +152,18 @@ DOID:4379 MONDO:excludeAllergy
DOID:4481 MONDO:excludeAllergy
DOID:9415 MONDO:excludeAllergy
DOID:0080577 MONDO:excludeGrouping
+DOID:0080578 MONDO:excludeGrouping
+DOID:0080712 MONDO:excludeGrouping
DOID:0081083 MONDO:excludeGrouping
DOID:0081084 MONDO:excludeGrouping
DOID:0081286 MONDO:excludeGrouping
DOID:0111721 MONDO:excludeGrouping
DOID:0112100 MONDO:excludeGrouping
DOID:070355 MONDO:excludeGrouping
+DOID:0080813 MONDO:excludeGroupingModifier
+DOID:0080814 MONDO:excludeGroupingModifier
+DOID:0080816 MONDO:excludeGroupingModifier
+DOID:0080824 MONDO:excludeGroupingModifier
DOID:0111823 MONDO:excludeHistoricalDisease
DOID:0050001 MONDO:excludeNonDisease
DOID:0050002 MONDO:excludeNonDisease
@@ -442,6 +448,7 @@ DOID:0050531 MONDO:excludeNonDisease
DOID:0050532 MONDO:excludeNonDisease
DOID:0050533 MONDO:excludeNonDisease
DOID:0050536 MONDO:excludeNonDisease
+DOID:0050549 MONDO:excludeNonDisease
DOID:0050550 MONDO:excludeNonDisease
DOID:0050551 MONDO:excludeNonDisease
DOID:0050556 MONDO:excludeNonDisease
@@ -2646,3 +2653,4 @@ DOID:0080879 MONDO:excludePhenotype
DOID:0111964 MONDO:excludePhenotype
DOID:0111965 MONDO:excludePhenotype
DOID:0111966 MONDO:excludePhenotype
+DOID:4667 MONDO:excludePhenotype
diff --git a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv
index 8bc3d3b1..e58f26ef 100644
--- a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv
+++ b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv
@@ -2,4 +2,5 @@ mondo_id source_id source
ID A oboInOwl:hasDbXref >A oboInOwl:source
MONDO:0008024 DOID:0111201 MONDO:equivalentObsolete
MONDO:0008025 DOID:0111208 MONDO:equivalentObsolete
+MONDO:0013127 DOID:0050549 MONDO:equivalentObsolete
MONDO:0015353 DOID:0111204 MONDO:equivalentObsolete
diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv
index 22a869fa..5ca98b4e 100644
--- a/src/ontology/reports/doid_mapping_status.tsv
+++ b/src/ontology/reports/doid_mapping_status.tsv
@@ -1,262 +1,42 @@
subject_id subject_label is_mapped is_excluded is_deprecated
-DOID:0050640 anauxetic dysplasia 1 False False False
-DOID:0060912 craniosynostosis 7 False False False
-DOID:0060913 proteosome-associated autoinflammatory syndrome False False False
-DOID:0060914 proteosome-associated autoinflammatory syndrome 2 False False False
-DOID:0060915 proteosome-associated autoinflammatory syndrome 4 False False False
-DOID:0060916 proteasome-associated autoinflammatory syndrome 3 False False False
-DOID:0060917 facioscapulohumeral muscular dystrophy 3 False False False
-DOID:0060918 facioscapulohumeral muscular dystrophy 4 False False False
-DOID:0060919 proteosome-associated autoinflammatory syndrome 5 False False False
-DOID:0060920 otosclerosis 1 False False False
-DOID:0060921 otosclerosis 2 False False False
-DOID:0060922 otosclerosis 3 False False False
-DOID:0060923 otosclerosis 4 False False False
-DOID:0060924 otosclerosis 5 False False False
-DOID:0060925 otosclerosis 7 False False False
-DOID:0060926 otosclerosis 8 False False False
-DOID:0060927 otosclerosis 10 False False False
-DOID:0060928 otosclerosis 11 False False False
-DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 False False False
-DOID:0060930 developmental dysplasia of the hip False False False
-DOID:0060931 developmental dysplasia of the hip 1 False False False
-DOID:0060932 developmental dysplasia of the hip 2 False False False
-DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies False False False
-DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy False False False
-DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 False False False
-DOID:0070257 congenital disorder of glycosylation type IIe False False False
-DOID:0070364 bradyopsia 2 False False False
-DOID:0070366 nevoid basal cell carcinoma syndrome 2 False False False
-DOID:0070367 leukoencephalopathy with vanishing white matter 5 False False False
-DOID:0070371 leukoencephalopathy with vanishing white matter 4 False False False
-DOID:0070372 leukoencephalopathy with vanishing white matter 3 False False False
-DOID:0070373 leukoencephalopathy with vanishing white matter 2 False False False
-DOID:0070376 developmental and epileptic encephalopathy 31B False False False
-DOID:0070396 progressive leukoencephalopathy with ovarian failure False False False
-DOID:0070424 combined oxidative phosphorylation deficiency 44 False False False
-DOID:0070425 combined oxidative phosphorylation deficiency 52 False False False
-DOID:0070426 combined oxidative phosphorylation deficiency 53 False False False
-DOID:0070427 combined oxidative phosphorylation deficiency 54 False False False
-DOID:0070428 combined oxidative phosphorylation deficiency 55 False False False
-DOID:0070429 combined oxidative phosphorylation deficiency 56 False False False
-DOID:0070430 combined oxidative phosphorylation deficiency 57 False False False
-DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome False False False
-DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 False False False
-DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 False False False
-DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 False False False
-DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 False False False
-DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 False False False
-DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 False False False
-DOID:0070438 retinal macular dystrophy False False False
-DOID:0070439 North Carolina macular dystrophy False False False
-DOID:0070440 retinal macular dystrophy 3 False False False
-DOID:0070441 retinal macular dystrophy 4 False False False
-DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 False False False
-DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction False False False
-DOID:0070444 neurodevelopmental disorder with language delay and seizures False False False
-DOID:0070445 early-onset dystonia and/or spastic paraplegia False False False
-DOID:0070446 mitochondrial DNA depletion syndrome 16 False False False
-DOID:0070447 mitochondrial DNA depletion syndrome 16B False False False
-DOID:0070448 mitochondrial DNA depletion syndrome 17 False False False
-DOID:0070449 mitochondrial DNA depletion syndrome 18 False False False
-DOID:0070450 mitochondrial DNA depletion syndrome 19 False False False
-DOID:0070451 mitochondrial DNA depletion syndrome 20 False False False
-DOID:0070452 xanthinuria type I False False False
-DOID:0070453 xanthinuria type II False False False
-DOID:0070454 hereditary spastic paraplegia 70 False False False
-DOID:0070455 hereditary spastic paraplegia 79A False False False
-DOID:0070456 hereditary spastic paraplegia 87 False False False
-DOID:0070457 hereditary spastic paraplegia 88 False False False
-DOID:0070458 hereditary spastic paraplegia 89 False False False
-DOID:0070459 hereditary spastic paraplegia 90A False False False
-DOID:0070460 hereditary spastic paraplegia 90B False False False
-DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A False False False
-DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B False False False
-DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 False False False
-DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 False False False
-DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 False False False
-DOID:0070466 carpal tunnel syndrome 1 False False False
-DOID:0070467 carpal tunnel syndrome 2 False False False
-DOID:0070468 Yoon-Bellen neurodevelopmental syndrome False False False
-DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum False False False
-DOID:0070470 chromosome 1p36.33 duplication syndrome False False False
-DOID:0070471 early-onset epilepsy 2 False False False
-DOID:0070472 early-onset epilepsy 3 False False False
-DOID:0070473 Zaki syndrome False False False
-DOID:0070474 childhood-onset neurodegeneration with brain atrophy False False False
-DOID:0070475 SMARCB1-deficient renal medullary carcinoma False False False
-DOID:0070476 diphthamide deficiency syndrome False False False
-DOID:0070477 diphthamide deficiency syndrome 1 False False False
-DOID:0070478 diphthamide deficiency syndrome 2 False False False
-DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties False False False
-DOID:0070480 schwannomatosis 1 False False False
-DOID:0070481 schwannomatosis 2 False False False
-DOID:0070482 spinal neurofibromatosis False False False
-DOID:0070483 Watson syndrome False False False
-DOID:0070484 Legius syndrome False False False
-DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 False False False
-DOID:0070486 Parkinson's disease 25 False False False
-DOID:0070487 dopamine transporter deficiency syndrome False False False
-DOID:0070488 atypical dopamine transporter deficiency syndrome False False False
-DOID:0070489 classic dopamine transporter deficiency syndrome False False False
-DOID:0070490 infantile parkinsonism-dystonia 2 False False False
-DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 False False False
-DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 False False False
-DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 False False False
-DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 False False False
-DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 False False False
-DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 False False False
-DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 False False False
-DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 False False False
-DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 False False False
-DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 False False False
-DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 False False False
-DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 False False False
-DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 False False False
-DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 False False False
-DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 False False False
-DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 False False False
-DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 False False False
-DOID:0070508 metabolic dysfunction and alcohol associated liver disease False False False
-DOID:0070509 Schinzel Giedion syndrome False False False
-DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses False False False
-DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy False False False
-DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay False False False
-DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities False False False
-DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies False False False
-DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb False False False
-DOID:0070516 Mitchell syndrome False False False
-DOID:0070517 retinal macular dystrophy 2 False False False
-DOID:0070518 familial multiple lipomatosis False False False
-DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 False False False
-DOID:0070520 peeling skin syndrome 1 False False False
-DOID:0070521 peeling skin syndrome 2 False False False
-DOID:0070522 peeling skin syndrome 3 False False False
-DOID:0070523 peeling skin syndrome 4 False False False
-DOID:0070524 peeling skin syndrome 5 False False False
-DOID:0070525 peeling skin syndrome 6 False False False
-DOID:0070526 PLACK syndrome False False False
-DOID:0070527 Borrelia miyamotoi disease False False False
-DOID:0070528 cepacia syndrome False False False
-DOID:0070529 Sifrim-Hitz-Weiss syndrome False False False
-DOID:0070530 foveal hypoplasia 1 False False False
-DOID:0070531 foveal hypoplasia 2 False False False
-DOID:0070532 aniridia 1 False False False
-DOID:0070533 long QT syndrome 16 False False False
-DOID:0070534 arrhythmogenic left ventricular cardiomyopathy False False False
-DOID:0070535 arrhythmogenic biventricular cardiomyopathy False False False
-DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures False False False
-DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly False False False
-DOID:0070538 syndromic X-linked intellectual developmental disorder bain type False False False
-DOID:0080400 orofacial cleft 7 False False False
-DOID:0080578 digenic disease False False False
-DOID:0080602 benign teratoma False False False
-DOID:0080684 diffuse midline glioma, H3 K27M-mutant False False False
-DOID:0080704 medulloblastoma SHH activated and TP53 mutant False False False
-DOID:0080705 medulloblastoma SHH activated and TP53 wild-type False False False
-DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 False False False
-DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 False False False
-DOID:0080712 gene duplication disease False False False
-DOID:0080748 chronic inducible urticaria False False False
-DOID:0080749 chronic spontaneous urticaria False False False
-DOID:0080763 diffuse gastric cancer False False False
-DOID:0080812 intermittent asthma False False False
-DOID:0080813 persistent mild asthma False False False
-DOID:0080814 persistent moderate asthma False False False
-DOID:0080816 adult-onset severe asthma False False False
-DOID:0080817 T2-high asthma False False False
-DOID:0080818 T2-low asthma False False False
-DOID:0080823 near-fatal asthma False False False
-DOID:0080824 persistent severe asthma False False False
-DOID:0080826 nocturnal asthma False False False
-DOID:0080856 vascular Parkinsonism False False False
-DOID:0080877 astrocytoma, IDH-mutant, grade 4 False False False
-DOID:0080880 diffuse glioma, H3 G34 mutant False False False
-DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant False False False
-DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma False False False
-DOID:0080894 lipofibromatosis-like neural tumor False False False
-DOID:0080897 solitary fibrous tumor/hemangiopericytoma False False False
-DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma False False False
-DOID:0081071 EZB-MYC- diffuse large B-cell lymphoma False False False
-DOID:0081250 CIC-rearranged sarcoma False False False
-DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive False False False
-DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive False False False
-DOID:0081254 posterior fossa group A ependymoma False False False
-DOID:0081255 posterior fossa group B ependymoma False False False
-DOID:0081256 astrocytoma, IDH-mutant, grade 2 False False False
-DOID:0081257 astrocytoma, IDH-mutant, grade 3 False False False
-DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 False False False
-DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 False False False
-DOID:0081352 congenital myopathy 20 False False False
-DOID:0081353 congenital myopathy 21 False False False
-DOID:0081354 congenital myopathy 22A False False False
-DOID:0081355 congenital myopathy 22B False False False
-DOID:0081359 epidermolytic hyperkeratosis 2 False False False
-DOID:0081370 LADD syndrome False False False
-DOID:0081371 lacrimoauriculodentodigital syndrome 2 False False False
-DOID:0081372 lacrimoauriculodentodigital syndrome 3 False False False
-DOID:0081373 disabling pansclerotic morphea False False False
-DOID:0081374 nemaline myopathy 5B False False False
-DOID:0081375 nemaline myopathy 5C False False False
-DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy False False False
-DOID:0081378 amyotrophic lateral sclerosis type 24 False False False
-DOID:0081379 amyotrophic lateral sclerosis type 25 False False False
-DOID:0081380 amyotrophic lateral sclerosis type 26 False False False
-DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 False False False
-DOID:0081382 amyotrophic lateral sclerosis type 28 False False False
-DOID:0081383 ataxia-oculomotor apraxia type 4 False False False
-DOID:0081384 ataxia-telangiectasia-like disorder-1 False False False
-DOID:0081385 ataxia-telangiectasia-like disorder-2 False False False
-DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias False False False
-DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities False False False
-DOID:0081388 primary progressive aphasia False False False
-DOID:0081389 logopenic progressive aphasia False False False
-DOID:0081390 progressive non-fluent aphasia False False False
-DOID:0081391 semantic dementia False False False
-DOID:0081392 corticobasal degeneration syndrome False False False
-DOID:0081393 organophosphate-induced delayed polyneuropathy False False False
-DOID:0081394 Caroli syndrome False False False
-DOID:0081395 Harel-Yoon syndrome False False False
-DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome False False False
-DOID:0081397 Vissers-Bodmer syndrome False False False
-DOID:0081398 holoprosencephaly 12 False False False
-DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 False False False
-DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 False False False
-DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 False False False
-DOID:0081402 sarcoma with BCOR genetic alterations False False False
+DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 False False False
+DOID:0060936 dystonia 28 childhood-onset False False False
+DOID:0060937 dystonia 30 False False False
+DOID:0060938 dystonia 31 False False False
+DOID:0060939 dystonia 32 False False False
+DOID:0060940 dystonia 33 False False False
+DOID:0060944 episodic kinesigenic dyskinesia 3 False False False
+DOID:0060955 dystonia 35, childhood-onset False False False
+DOID:0060956 dystonia 37, early-onset with striatal lesions False False False
+DOID:0060957 myoclonic dystonia 34 False False False
+DOID:0060963 dystonia, DOPA-responsive False False False
+DOID:0060966 dystonia 22, juvenile-onset False False False
+DOID:0060967 dystonia 22, adult-onset False False False
+DOID:0070539 Halperin-Birk syndrome False False False
DOID:0081403 BCOR ITD sarcoma False False False
DOID:0081404 BCOR-CCNB3 sarcoma False False False
DOID:0081405 childhood sarcoma with BCOR genetic alterations False False False
-DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion False False False
DOID:0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion False False False
DOID:0081408 round cell sarcoma with EWSR1-NFATC2 gene fusion False False False
DOID:0081409 round cell sarcoma with EWSR1-PATZ1 gene fusion False False False
DOID:0081410 round cell sarcoma with FUS-NFATC2 gene fusion False False False
-DOID:0081411 B acute lymphoblastic leukemia with PAX5 P80R mutation False False False
-DOID:0081412 B acute lymphoblastic leukemia with DUX4 rearrangement False False False
-DOID:0081413 renal cell carcinoma with MiT translocations False False False
DOID:0081414 TFEB-rearranged renal cell carcinoma False False False
-DOID:0081415 TFE3-rearranged renal cell carcinoma False False False
DOID:0081416 childhood renal cell carcinoma with MiT translocations False False False
-DOID:0081417 poorly differentiated chordoma False False False
-DOID:0081418 anaplastic sarcoma of the kidney False False False
-DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities False False False
-DOID:0081420 familial focal epilepsy with variable foci False False False
-DOID:0081421 familial focal epilepsy with variable foci 1 False False False
-DOID:0081422 familial focal epilepsy with variable foci 2 False False False
-DOID:0081423 familial focal epilepsy with variable foci 3 False False False
-DOID:0081424 familial focal epilepsy with variable foci 4 False False False
-DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 False False False
-DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 False False False
-DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 False False False
-DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 False False False
-DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 False False False
-DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures False False False
-DOID:0110649 long QT syndrome 8 False False False
-DOID:0111503 Li-Fraumeni syndrome 1 False False False
-DOID:0112103 Sotos syndrome 1 False False False
-DOID:2938 Epstein-Barr virus infectious disease False False False
-DOID:4667 kyphosis False False False
+DOID:0081431 microcephaly, short stature, and limb abnormalities False False False
+DOID:0081432 microcephaly-micromelia syndrome False False False
+DOID:0081433 Peroxisome biogenesis disorder 4B False False False
+DOID:0081434 Peroxisome biogenesis disorder 5B False False False
+DOID:0081435 Peroxisome biogenesis disorder 6B False False False
+DOID:0081436 Peroxisome biogenesis disorder 7B False False False
+DOID:0081437 Peroxisome biogenesis disorder 8B False False False
+DOID:0081438 Peroxisome biogenesis disorder 9B False False False
+DOID:0081439 Peroxisome biogenesis disorder 11B False False False
+DOID:0081440 Peroxisome biogenesis disorder 10B False False False
+DOID:0081441 Nicolaides-Baraitser syndrome False False False
+DOID:0081442 blepharophimosis-impaired intellectual development syndrome False False False
+DOID:0081443 Stolerman neurodevelopmental syndrome False False False
+DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities False False False
+DOID:2536 chronic inflammatory demyelinating polyneuritis False False False
DOID:4668 congenital kyphosis False False False
DOID:9373 postural kyphosis False False False
DOID:2214 obsolete inherited blood coagulation disease False False True
@@ -346,8 +126,14 @@ DOID:0060904 legume allergy False True False
DOID:0070334 vegetable allergy False True False
DOID:0070335 celery allergy False True False
DOID:0080577 polygenic disease False True False
+DOID:0080578 digenic disease False True False
DOID:0080666 warfarin sensitivity False True False
DOID:0080685 aortic dissection False True False
+DOID:0080712 gene duplication disease False True False
+DOID:0080813 persistent mild asthma False True False
+DOID:0080814 persistent moderate asthma False True False
+DOID:0080816 adult-onset severe asthma False True False
+DOID:0080824 persistent severe asthma False True False
DOID:0080825 thunderstorm triggered asthma False True False
DOID:0080832 mild cognitive impairment False True False
DOID:0080879 histone mutated tumor False True False
@@ -363,6 +149,7 @@ DOID:0111965 T cell, B cell, and NK cell deficiency False True False
DOID:0111966 monocyte, dendritic cell, and NK cell deficiency False True False
DOID:0112100 mitochondrial type mitochondrial complex I deficiency False True False
DOID:070355 multisystem proteinopathy False True False
+DOID:4667 kyphosis False True False
DOID:0050001 obsolete Actinomadura madurae infectious disease False True True
DOID:0050002 obsolete Actinomadura pelletieri infectious disease False True True
DOID:0050003 obsolete Streptomyces somaliensis infectious disease False True True
@@ -3056,7 +2843,6 @@ DOID:0050545 visceral heterotaxy True False False
DOID:0050546 congenital adrenal insufficiency True False False
DOID:0050547 familial medullary thyroid carcinoma True False False
DOID:0050548 hereditary sensory neuropathy True False False
-DOID:0050549 Saldino-Noonan syndrome True False False
DOID:0050553 proteasome-associated autoinflammatory syndrome 1 True False False
DOID:0050554 X-linked sideroblastic anemia with ataxia True False False
DOID:0050557 congenital muscular dystrophy True False False
@@ -3132,6 +2918,7 @@ DOID:0050636 familial visceral amyloidosis True False False
DOID:0050637 Finnish type amyloidosis True False False
DOID:0050638 transthyretin amyloidosis True False False
DOID:0050639 primary cutaneous amyloidosis True False False
+DOID:0050640 anauxetic dysplasia 1 True False False
DOID:0050641 Rh deficiency syndrome True False False
DOID:0050642 hypochromic microcytic anemia True False False
DOID:0050644 arterial calcification of infancy True False False
@@ -3661,15 +3448,15 @@ DOID:0060201 amyotrophic lateral sclerosis type 10 True False False
DOID:0060202 amyotrophic lateral sclerosis type 11 True False False
DOID:0060203 amyotrophic lateral sclerosis type 12 True False False
DOID:0060204 amyotrophic lateral sclerosis type 13 True False False
-DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 True False False
+DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 True False False
DOID:0060206 amyotrophic lateral sclerosis type 15 True False False
DOID:0060207 amyotrophic lateral sclerosis type 16 True False False
DOID:0060209 amyotrophic lateral sclerosis type 18 True False False
DOID:0060210 amyotrophic lateral sclerosis type 19 True False False
DOID:0060211 amyotrophic lateral sclerosis type 20 True False False
DOID:0060212 amyotrophic lateral sclerosis type 21 True False False
-DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 True False False
-DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 True False False
+DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 True False False
+DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 True False False
DOID:0060215 Balo concentric sclerosis True False False
DOID:0060216 Cogan syndrome True False False
DOID:0060217 Cogan-Reese syndrome True False False
@@ -3745,7 +3532,7 @@ DOID:0060286 combined oxidative phosphorylation deficiency True False False
DOID:0060287 cornea plana True False False
DOID:0060288 omodysplasia True False False
DOID:0060289 Ohdo syndrome True False False
-DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type True False False
+DOID:0060290 Ohdo syndrome, SBBYS variant True False False
DOID:0060291 oculodentodigital dysplasia True False False
DOID:0060292 X-linked chondrodysplasia punctata 1 True False False
DOID:0060293 autosomal dominant chondrodysplasia punctata True False False
@@ -3788,7 +3575,6 @@ DOID:0060329 ectopic pregnancy True False False
DOID:0060330 Rapp-Hodgkin syndrome True False False
DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 True False False
DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 True False False
-DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 True False False
DOID:0060334 transient neonatal diabetes mellitus True False False
DOID:0060335 autosomal dominant sideroblastic anemia 4 True False False
DOID:0060336 3-methylglutaconic aciduria True False False
@@ -4250,6 +4036,30 @@ DOID:0060901 lymphoplasmacytic lymphoma True False False
DOID:0060902 Norman-Roberts syndrome True False False
DOID:0060903 thrombosis True False False
DOID:0060911 karyomegalic interstitial nephritis True False False
+DOID:0060912 craniosynostosis 7 True False False
+DOID:0060913 proteosome-associated autoinflammatory syndrome True False False
+DOID:0060914 proteosome-associated autoinflammatory syndrome 2 True False False
+DOID:0060915 proteosome-associated autoinflammatory syndrome 4 True False False
+DOID:0060916 proteasome-associated autoinflammatory syndrome 3 True False False
+DOID:0060917 facioscapulohumeral muscular dystrophy 3 True False False
+DOID:0060918 facioscapulohumeral muscular dystrophy 4 True False False
+DOID:0060919 proteosome-associated autoinflammatory syndrome 5 True False False
+DOID:0060920 otosclerosis 1 True False False
+DOID:0060921 otosclerosis 2 True False False
+DOID:0060922 otosclerosis 3 True False False
+DOID:0060923 otosclerosis 4 True False False
+DOID:0060924 otosclerosis 5 True False False
+DOID:0060925 otosclerosis 7 True False False
+DOID:0060926 otosclerosis 8 True False False
+DOID:0060927 otosclerosis 10 True False False
+DOID:0060928 otosclerosis 11 True False False
+DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 True False False
+DOID:0060930 developmental dysplasia of the hip True False False
+DOID:0060931 developmental dysplasia of the hip 1 True False False
+DOID:0060932 developmental dysplasia of the hip 2 True False False
+DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies True False False
+DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy True False False
+DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 True False False
DOID:0070000 3-methylglutaconic aciduria type 8 True False False
DOID:0070002 3-methylglutaconic aciduria type 9 True False False
DOID:0070003 blastoma True False False
@@ -4492,6 +4302,7 @@ DOID:0070253 congenital disorder of glycosylation type IIa True False False
DOID:0070254 congenital disorder of glycosylation type IIb True False False
DOID:0070255 congenital disorder of glycosylation type IIc True False False
DOID:0070256 congenital disorder of glycosylation type IId True False False
+DOID:0070257 congenital disorder of glycosylation type IIe True False False
DOID:0070258 congenital disorder of glycosylation type IIf True False False
DOID:0070259 congenital disorder of glycosylation type IIg True False False
DOID:0070260 congenital disorder of glycosylation type IIh True False False
@@ -4595,12 +4406,19 @@ DOID:0070360 primary biliary cholangitis 3 True False False
DOID:0070361 primary biliary cholangitis 4 True False False
DOID:0070362 primary biliary cholangitis 5 True False False
DOID:0070363 bradyopsia 1 True False False
+DOID:0070364 bradyopsia 2 True False False
DOID:0070365 nevoid basal cell carcinoma syndrome 1 True False False
+DOID:0070366 nevoid basal cell carcinoma syndrome 2 True False False
+DOID:0070367 leukoencephalopathy with vanishing white matter 5 True False False
DOID:0070368 autosomal recessive chronic granulomatous disease 5 True False False
DOID:0070369 restrictive dermopathy 1 True False False
DOID:0070370 restrictive dermopathy 2 True False False
+DOID:0070371 leukoencephalopathy with vanishing white matter 4 True False False
+DOID:0070372 leukoencephalopathy with vanishing white matter 3 True False False
+DOID:0070373 leukoencephalopathy with vanishing white matter 2 True False False
DOID:0070374 leukoencephalopathy with vanishing white matter 1 True False False
DOID:0070375 developmental and epileptic encephalopathy 64 True False False
+DOID:0070376 developmental and epileptic encephalopathy 31B True False False
DOID:0070377 developmental and epileptic encephalopathy 96 True False False
DOID:0070378 developmental and epileptic encephalopathy 109 True False False
DOID:0070379 developmental and epileptic encephalopathy 6B True False False
@@ -4620,6 +4438,7 @@ DOID:0070392 developmental and epileptic encephalopathy 106 True False False
DOID:0070393 developmental and epileptic encephalopathy 107 True False False
DOID:0070394 developmental and epileptic encephalopathy 108 True False False
DOID:0070395 developmental and epileptic encephalopathy 110 True False False
+DOID:0070396 progressive leukoencephalopathy with ovarian failure True False False
DOID:0070397 hypomyelinating leukodystrophy 23 True False False
DOID:0070398 hypomyelinating leukodystrophy 15 True False False
DOID:0070399 hypomyelinating leukodystrophy 18 True False False
@@ -4647,6 +4466,121 @@ DOID:0070420 developmental delay, hypotonia, and impaired language True False Fa
DOID:0070421 neurodevelopmental disorder with spasticity and poor growth True False False
DOID:0070422 syndromic X-linked intellectual disability Pilorge type True False False
DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum True False False
+DOID:0070424 combined oxidative phosphorylation deficiency 44 True False False
+DOID:0070425 combined oxidative phosphorylation deficiency 52 True False False
+DOID:0070426 combined oxidative phosphorylation deficiency 53 True False False
+DOID:0070427 combined oxidative phosphorylation deficiency 54 True False False
+DOID:0070428 combined oxidative phosphorylation deficiency 55 True False False
+DOID:0070429 combined oxidative phosphorylation deficiency 56 True False False
+DOID:0070430 combined oxidative phosphorylation deficiency 57 True False False
+DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome True False False
+DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 True False False
+DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 True False False
+DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 True False False
+DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 True False False
+DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 True False False
+DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 True False False
+DOID:0070438 retinal macular dystrophy True False False
+DOID:0070439 North Carolina macular dystrophy True False False
+DOID:0070440 retinal macular dystrophy 3 True False False
+DOID:0070441 retinal macular dystrophy 4 True False False
+DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 True False False
+DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction True False False
+DOID:0070444 neurodevelopmental disorder with language delay and seizures True False False
+DOID:0070445 early-onset dystonia and/or spastic paraplegia True False False
+DOID:0070446 mitochondrial DNA depletion syndrome 16 True False False
+DOID:0070447 mitochondrial DNA depletion syndrome 16B True False False
+DOID:0070448 mitochondrial DNA depletion syndrome 17 True False False
+DOID:0070449 mitochondrial DNA depletion syndrome 18 True False False
+DOID:0070450 mitochondrial DNA depletion syndrome 19 True False False
+DOID:0070451 mitochondrial DNA depletion syndrome 20 True False False
+DOID:0070452 xanthinuria type I True False False
+DOID:0070453 xanthinuria type II True False False
+DOID:0070454 hereditary spastic paraplegia 70 True False False
+DOID:0070455 hereditary spastic paraplegia 79A True False False
+DOID:0070456 hereditary spastic paraplegia 87 True False False
+DOID:0070457 hereditary spastic paraplegia 88 True False False
+DOID:0070458 hereditary spastic paraplegia 89 True False False
+DOID:0070459 hereditary spastic paraplegia 90A True False False
+DOID:0070460 hereditary spastic paraplegia 90B True False False
+DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A True False False
+DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B True False False
+DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 True False False
+DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 True False False
+DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 True False False
+DOID:0070466 carpal tunnel syndrome 1 True False False
+DOID:0070467 carpal tunnel syndrome 2 True False False
+DOID:0070468 Yoon-Bellen neurodevelopmental syndrome True False False
+DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum True False False
+DOID:0070470 chromosome 1p36.33 duplication syndrome True False False
+DOID:0070471 early-onset epilepsy 2 True False False
+DOID:0070472 early-onset epilepsy 3 True False False
+DOID:0070473 Zaki syndrome True False False
+DOID:0070474 childhood-onset neurodegeneration with brain atrophy True False False
+DOID:0070475 SMARCB1-deficient renal medullary carcinoma True False False
+DOID:0070476 diphthamide deficiency syndrome True False False
+DOID:0070477 diphthamide deficiency syndrome 1 True False False
+DOID:0070478 diphthamide deficiency syndrome 2 True False False
+DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties True False False
+DOID:0070480 schwannomatosis 1 True False False
+DOID:0070481 schwannomatosis 2 True False False
+DOID:0070482 spinal neurofibromatosis True False False
+DOID:0070483 Watson syndrome True False False
+DOID:0070484 Legius syndrome True False False
+DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 True False False
+DOID:0070486 Parkinson's disease 25 True False False
+DOID:0070487 dopamine transporter deficiency syndrome True False False
+DOID:0070488 atypical dopamine transporter deficiency syndrome True False False
+DOID:0070489 classic dopamine transporter deficiency syndrome True False False
+DOID:0070490 infantile parkinsonism-dystonia 2 True False False
+DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 True False False
+DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 True False False
+DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 True False False
+DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 True False False
+DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 True False False
+DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 True False False
+DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 True False False
+DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 True False False
+DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 True False False
+DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 True False False
+DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 True False False
+DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 True False False
+DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 True False False
+DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 True False False
+DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 True False False
+DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 True False False
+DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 True False False
+DOID:0070508 metabolic dysfunction and alcohol associated liver disease True False False
+DOID:0070509 Schinzel Giedion syndrome True False False
+DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses True False False
+DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy True False False
+DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay True False False
+DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities True False False
+DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies True False False
+DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb True False False
+DOID:0070516 Mitchell syndrome True False False
+DOID:0070517 retinal macular dystrophy 2 True False False
+DOID:0070518 familial multiple lipomatosis True False False
+DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 True False False
+DOID:0070520 peeling skin syndrome 1 True False False
+DOID:0070521 peeling skin syndrome 2 True False False
+DOID:0070522 peeling skin syndrome 3 True False False
+DOID:0070523 peeling skin syndrome 4 True False False
+DOID:0070524 peeling skin syndrome 5 True False False
+DOID:0070525 peeling skin syndrome 6 True False False
+DOID:0070526 PLACK syndrome True False False
+DOID:0070527 Borrelia miyamotoi disease True False False
+DOID:0070528 cepacia syndrome True False False
+DOID:0070529 Sifrim-Hitz-Weiss syndrome True False False
+DOID:0070530 foveal hypoplasia 1 True False False
+DOID:0070531 foveal hypoplasia 2 True False False
+DOID:0070532 aniridia 1 True False False
+DOID:0070533 long QT syndrome 16 True False False
+DOID:0070534 arrhythmogenic left ventricular cardiomyopathy True False False
+DOID:0070535 arrhythmogenic biventricular cardiomyopathy True False False
+DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures True False False
+DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly True False False
+DOID:0070538 syndromic X-linked intellectual developmental disorder bain type True False False
DOID:0080000 muscular disease True False False
DOID:0080001 bone disease True False False
DOID:0080005 bone remodeling disease True False False
@@ -5019,6 +4953,7 @@ DOID:0080396 orofacial cleft 2 True False False
DOID:0080397 orofacial cleft 3 True False False
DOID:0080398 orofacial cleft 4 True False False
DOID:0080399 orofacial cleft 5 True False False
+DOID:0080400 orofacial cleft 7 True False False
DOID:0080401 orofacial cleft 8 True False False
DOID:0080402 orofacial cleft 9 True False False
DOID:0080403 orofacial cleft 10 True False False
@@ -5214,6 +5149,7 @@ DOID:0080598 Kleefstra syndrome 2 True False False
DOID:0080599 Coronavirus infectious disease True False False
DOID:0080600 COVID-19 True False False
DOID:0080601 germ cell benign neoplasm True False False
+DOID:0080602 benign teratoma True False False
DOID:0080603 ankylosing spondylitis 1 True False False
DOID:0080604 ankylosing spondylitis 2 True False False
DOID:0080605 ankylosing spondylitis 3 True False False
@@ -5289,6 +5225,7 @@ DOID:0080680 neuronal intestinal dysplasia type B True False False
DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction True False False
DOID:0080682 autosomal dominant familial visceral neuropathy True False False
DOID:0080683 nonsyndromic congenital nail disorder True False False
+DOID:0080684 diffuse midline glioma, H3 K27M-mutant True False False
DOID:0080686 tubular aggregate myopathy 2 True False False
DOID:0080687 reducing body myopathy 1B True False False
DOID:0080688 mosaic variegated aneuploidy syndrome True False False
@@ -5307,7 +5244,11 @@ DOID:0080700 caudal regression syndrome True False False
DOID:0080701 prothrombin thrombophilia True False False
DOID:0080702 medulloblastoma WNT activated True False False
DOID:0080703 medulloblastoma SHH activated True False False
+DOID:0080704 medulloblastoma SHH activated and TP53 mutant True False False
+DOID:0080705 medulloblastoma SHH activated and TP53 wild-type True False False
DOID:0080706 medulloblastoma non-WNT/non-SHH True False False
+DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 True False False
+DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 True False False
DOID:0080709 NK cell deficiency True False False
DOID:0080710 T cell and NK cell immunodeficiency True False False
DOID:0080711 multisystem inflammatory syndrome in children True False False
@@ -5345,6 +5286,8 @@ DOID:0080744 antisynthetase syndrome True False False
DOID:0080745 polymyositis True False False
DOID:0080746 Sweet syndrome True False False
DOID:0080747 chronic urticaria True False False
+DOID:0080748 chronic inducible urticaria True False False
+DOID:0080749 chronic spontaneous urticaria True False False
DOID:0080750 erythema nodosum True False False
DOID:0080751 keratosis pilaris atrophicans True False False
DOID:0080752 keratosis pilaris atrophicans faciei True False False
@@ -5358,6 +5301,7 @@ DOID:0080759 Fanconi renotubular syndrome 3 True False False
DOID:0080760 Fanconi renotubular syndrome 4 True False False
DOID:0080761 Fanconi renotubular syndrome 5 True False False
DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z True False False
+DOID:0080763 diffuse gastric cancer True False False
DOID:0080764 hereditary diffuse gastric cancer True False False
DOID:0080765 autosomal recessive intellectual developmental disorder 72 True False False
DOID:0080766 erythrokeratodermia variabilis et progressiva 6 True False False
@@ -5404,11 +5348,16 @@ DOID:0080808 mammary analogue secretory carcinoma True False False
DOID:0080809 chronic asthma True False False
DOID:0080810 acute asthma True False False
DOID:0080811 extrinsic asthma True False False
+DOID:0080812 intermittent asthma True False False
DOID:0080815 childhood-onset asthma True False False
+DOID:0080817 T2-high asthma True False False
+DOID:0080818 T2-low asthma True False False
DOID:0080819 environmental induced asthma True False False
DOID:0080820 occupational asthma True False False
DOID:0080821 exercise-induced bronchoconstriction True False False
DOID:0080822 aspirin-induced respiratory disease True False False
+DOID:0080823 near-fatal asthma True False False
+DOID:0080826 nocturnal asthma True False False
DOID:0080827 human cytomegalovirus infection True False False
DOID:0080828 VEXAS syndrome True False False
DOID:0080829 low grade glioma True False False
@@ -5433,6 +5382,7 @@ DOID:0080851 IgA pemphigus True False False
DOID:0080852 paraneoplastic pemphigus True False False
DOID:0080854 anaplastic pleomorphic xanthoastrocytoma True False False
DOID:0080855 Parkinsonism True False False
+DOID:0080856 vascular Parkinsonism True False False
DOID:0080857 primary ovarian insufficiency 1 True False False
DOID:0080858 primary ovarian insufficiency 2A True False False
DOID:0080859 primary ovarian insufficiency 2B True False False
@@ -5453,7 +5403,10 @@ DOID:0080873 primary ovarian insufficiency 16 True False False
DOID:0080874 primary ovarian insufficiency 17 True False False
DOID:0080875 IDH-mutant anaplastic astrocytoma True False False
DOID:0080876 IDH-wildtype anaplastic astrocytoma True False False
+DOID:0080877 astrocytoma, IDH-mutant, grade 4 True False False
DOID:0080878 IDH-wildtype glioblastoma True False False
+DOID:0080880 diffuse glioma, H3 G34 mutant True False False
+DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant True False False
DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma True False False
DOID:0080883 vitamin D-dependent rickets True False False
DOID:0080884 vitamin D-dependent rickets type 2A True False False
@@ -5463,10 +5416,13 @@ DOID:0080887 vitamin D-dependent rickets type 1B True False False
DOID:0080888 spinal ependymoma, MYCN-amplified True False False
DOID:0080889 posterior fossa ependymoma True False False
DOID:0080890 supratentorial ependymoma True False False
+DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma True False False
DOID:0080892 RELA fusion-positive ependymoma True False False
DOID:0080893 Bainbridge-Ropers syndrome True False False
+DOID:0080894 lipofibromatosis-like neural tumor True False False
DOID:0080895 rapidly involuting congenital hemangioma True False False
DOID:0080896 pericytoma with t(7;12) True False False
+DOID:0080897 solitary fibrous tumor/hemangiopericytoma True False False
DOID:0080898 cerebellofaciodental syndrome True False False
DOID:0080899 lung pleomorphic carcinoma True False False
DOID:0080900 oral rhabdomyosarcoma True False False
@@ -5621,6 +5577,8 @@ DOID:0081066 MCD diffuse large B-cell lymphoma True False False
DOID:0081067 N1 diffuse large B-cell lymphoma True False False
DOID:0081068 ST2 diffuse large B-cell lymphoma True False False
DOID:0081069 A53 diffuse large B-cell lymphoma True False False
+DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma True False False
+DOID:0081071 EZB-MYC- diffuse large B-cell lymphoma True False False
DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome True False False
DOID:0081073 Teebi hypertelorism syndrome True False False
DOID:0081074 Teebi hypertelorism syndrome 2 True False False
@@ -5788,7 +5746,14 @@ DOID:0081246 teratoma with somatic-type malignancy True False False
DOID:0081247 dedifferentiated chondrosarcoma True False False
DOID:0081248 pineocytoma True False False
DOID:0081249 EWSR1-negative small round cell tumor True False False
+DOID:0081250 CIC-rearranged sarcoma True False False
DOID:0081251 papillary tumor of the pineal region True False False
+DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive True False False
+DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive True False False
+DOID:0081254 posterior fossa group A ependymoma True False False
+DOID:0081255 posterior fossa group B ependymoma True False False
+DOID:0081256 astrocytoma, IDH-mutant, grade 2 True False False
+DOID:0081257 astrocytoma, IDH-mutant, grade 3 True False False
DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma True False False
DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered True False False
DOID:0081261 angiocentric glioma True False False
@@ -5811,6 +5776,8 @@ DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildt
DOID:0081278 infant-type hemispheric glioma True False False
DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered True False False
DOID:0081280 pituicytoma True False False
+DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 True False False
+DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 True False False
DOID:0081283 papillary glioneuronal tumor True False False
DOID:0081284 rosette-forming glioneuronal tumor True False False
DOID:0081285 myxoid glioneuronal tumor True False False
@@ -5879,9 +5846,14 @@ DOID:0081348 congenital myopathy 16 True False False
DOID:0081349 congenital myopathy 17 True False False
DOID:0081350 congenital myopathy 18 True False False
DOID:0081351 congenital myopathy 19 True False False
+DOID:0081352 congenital myopathy 20 True False False
+DOID:0081353 congenital myopathy 21 True False False
+DOID:0081354 congenital myopathy 22A True False False
+DOID:0081355 congenital myopathy 22B True False False
DOID:0081356 spinal muscular atrophy, Jokela type True False False
DOID:0081357 isolated mitochondrial myopathy True False False
DOID:0081358 epidermolytic hyperkeratosis 1 True False False
+DOID:0081359 epidermolytic hyperkeratosis 2 True False False
DOID:0081360 spastic quadriplegic cerebral palsy 2 True False False
DOID:0081361 spastic quadriplegic cerebral palsy 3 True False False
DOID:0081362 Pierpont syndrome True False False
@@ -5892,6 +5864,57 @@ DOID:0081366 Paget's disease of bone 3 True False False
DOID:0081367 Paget's disease of bone 4 True False False
DOID:0081368 Paget's disease of bone 5 True False False
DOID:0081369 Paget's disease of bone 6 True False False
+DOID:0081370 LADD syndrome True False False
+DOID:0081371 lacrimoauriculodentodigital syndrome 2 True False False
+DOID:0081372 lacrimoauriculodentodigital syndrome 3 True False False
+DOID:0081373 disabling pansclerotic morphea True False False
+DOID:0081374 nemaline myopathy 5B True False False
+DOID:0081375 nemaline myopathy 5C True False False
+DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy True False False
+DOID:0081378 amyotrophic lateral sclerosis type 24 True False False
+DOID:0081379 amyotrophic lateral sclerosis type 25 True False False
+DOID:0081380 amyotrophic lateral sclerosis type 26 True False False
+DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 True False False
+DOID:0081382 amyotrophic lateral sclerosis type 28 True False False
+DOID:0081383 ataxia-oculomotor apraxia type 4 True False False
+DOID:0081384 ataxia-telangiectasia-like disorder-1 True False False
+DOID:0081385 ataxia-telangiectasia-like disorder-2 True False False
+DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias True False False
+DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities True False False
+DOID:0081388 primary progressive aphasia True False False
+DOID:0081389 logopenic progressive aphasia True False False
+DOID:0081390 progressive non-fluent aphasia True False False
+DOID:0081391 semantic dementia True False False
+DOID:0081392 corticobasal degeneration syndrome True False False
+DOID:0081393 organophosphate-induced delayed polyneuropathy True False False
+DOID:0081394 Caroli syndrome True False False
+DOID:0081395 Harel-Yoon syndrome True False False
+DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome True False False
+DOID:0081397 Vissers-Bodmer syndrome True False False
+DOID:0081398 holoprosencephaly 12 True False False
+DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 True False False
+DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 True False False
+DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 True False False
+DOID:0081402 sarcoma with BCOR genetic alterations True False False
+DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion True False False
+DOID:0081411 B acute lymphoblastic leukemia with PAX5 P80R mutation True False False
+DOID:0081412 B acute lymphoblastic leukemia with DUX4 rearrangement True False False
+DOID:0081413 renal cell carcinoma with MiT translocations True False False
+DOID:0081415 TFE3-rearranged renal cell carcinoma True False False
+DOID:0081417 poorly differentiated chordoma True False False
+DOID:0081418 anaplastic sarcoma of the kidney True False False
+DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities True False False
+DOID:0081420 familial focal epilepsy with variable foci True False False
+DOID:0081421 familial focal epilepsy with variable foci 1 True False False
+DOID:0081422 familial focal epilepsy with variable foci 2 True False False
+DOID:0081423 familial focal epilepsy with variable foci 3 True False False
+DOID:0081424 familial focal epilepsy with variable foci 4 True False False
+DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 True False False
+DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 True False False
+DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 True False False
+DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 True False False
+DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 True False False
+DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures True False False
DOID:0090001 Fraser syndrome True False False
DOID:0090002 Tietz syndrome True False False
DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy True False False
@@ -6099,8 +6122,8 @@ DOID:0110064 amelogenesis imperfecta type 1H True False False
DOID:0110065 amelogenesis imperfecta type 1F True False False
DOID:0110066 amelogenesis imperfecta type 1G True False False
DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia True False False
-DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 True False False
-DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 True False False
+DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 True False False
+DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 True False False
DOID:0110070 arrhythmogenic right ventricular dysplasia 1 True False False
DOID:0110072 arrhythmogenic right ventricular dysplasia 3 True False False
DOID:0110073 arrhythmogenic right ventricular dysplasia 4 True False False
@@ -6659,6 +6682,7 @@ DOID:0110645 long QT syndrome 2 True False False
DOID:0110646 long QT syndrome 3 True False False
DOID:0110647 long QT syndrome 5 True False False
DOID:0110648 long QT syndrome 6 True False False
+DOID:0110649 long QT syndrome 8 True False False
DOID:0110650 long QT syndrome 9 True False False
DOID:0110651 long QT syndrome 10 True False False
DOID:0110652 long QT syndrome 11 True False False
@@ -7206,7 +7230,7 @@ DOID:0111223 centronuclear myopathy 1 True False False
DOID:0111224 centronuclear myopathy 4 True False False
DOID:0111225 centronuclear myopathy X-linked True False False
DOID:0111226 X-linked congenital myopathy with fiber-type disproportion True False False
-DOID:0111227 chromosome 3-linked frontotemporal dementia True False False
+DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 True False False
DOID:0111228 Sveinsson chorioretinal atrophy True False False
DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A True False False
DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 True False False
@@ -7481,6 +7505,7 @@ DOID:0111499 combined oxidative phosphorylation deficiency 37 True False False
DOID:0111500 combined oxidative phosphorylation deficiency 23 True False False
DOID:0111501 combined oxidative phosphorylation deficiency 29 True False False
DOID:0111502 combined oxidative phosphorylation deficiency 6 True False False
+DOID:0111503 Li-Fraumeni syndrome 1 True False False
DOID:0111504 Li-Fraumeni syndrome 2 True False False
DOID:0111505 palmoplantar keratoderma-deafness syndrome True False False
DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome True False False
@@ -8072,6 +8097,7 @@ DOID:0112098 nuclear type mitochondrial complex I deficiency 30 True False False
DOID:0112099 nuclear type mitochondrial complex I deficiency 12 True False False
DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 True False False
DOID:0112102 Sotos syndrome 2 True False False
+DOID:0112103 Sotos syndrome 1 True False False
DOID:0112104 Sotos syndrome 3 True False False
DOID:0112105 X-linked parkinsonism-spasticity syndrome True False False
DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia True False False
@@ -10491,7 +10517,6 @@ DOID:2529 splenic disease True False False
DOID:2530 splenic abscess True False False
DOID:2531 hematologic cancer True False False
DOID:2533 splenic infarction True False False
-DOID:2536 chronic inflammatory demyelinating polyneuritis True False False
DOID:2537 inflammatory and toxic neuropathy True False False
DOID:2538 Landau-Kleffner syndrome True False False
DOID:254 hemangioma of intra-abdominal structure True False False
@@ -10690,6 +10715,7 @@ DOID:2929 Newcastle disease True False False
DOID:293 lacrimal gland carcinoma True False False
DOID:2934 aleutian mink disease True False False
DOID:2935 Chediak-Higashi syndrome True False False
+DOID:2938 Epstein-Barr virus infectious disease True False False
DOID:294 lacrimal gland cancer True False False
DOID:2942 bronchiolitis True False False
DOID:2945 severe acute respiratory syndrome True False False
@@ -13980,6 +14006,7 @@ DOID:4379 nut allergy True True False
DOID:4481 allergic rhinitis True True False
DOID:9415 allergic asthma True True False
DOID:0050068 obsolete pestis minor True True True
+DOID:0050549 obsolete Saldino-Noonan syndrome True True True
DOID:0050867 obsolete Jensen syndrome True True True
DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C True True True
DOID:0111201 obsolete distal hereditary motor neuronopathy type 7A True True True
diff --git a/src/ontology/reports/doid_term_exclusions.txt b/src/ontology/reports/doid_term_exclusions.txt
index 4b4913be..00895aff 100644
--- a/src/ontology/reports/doid_term_exclusions.txt
+++ b/src/ontology/reports/doid_term_exclusions.txt
@@ -366,6 +366,7 @@ DOID:0050531
DOID:0050532
DOID:0050533
DOID:0050536
+DOID:0050549
DOID:0050550
DOID:0050551
DOID:0050556
@@ -479,10 +480,16 @@ DOID:0080423
DOID:0080466
DOID:0080469
DOID:0080577
+DOID:0080578
DOID:0080666
DOID:0080685
+DOID:0080712
DOID:0080713
DOID:0080783
+DOID:0080813
+DOID:0080814
+DOID:0080816
+DOID:0080824
DOID:0080825
DOID:0080831
DOID:0080832
@@ -1707,6 +1714,7 @@ DOID:4631
DOID:4641
DOID:4655
DOID:4665
+DOID:4667
DOID:4684
DOID:4694
DOID:4700
diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv
index faf44a02..f1b8f62e 100644
--- a/src/ontology/reports/doid_unmapped_terms.tsv
+++ b/src/ontology/reports/doid_unmapped_terms.tsv
@@ -1,261 +1,41 @@
subject_id subject_label
-DOID:0081412 B acute lymphoblastic leukemia with DUX4 rearrangement
-DOID:0081411 B acute lymphoblastic leukemia with PAX5 P80R mutation
DOID:0081403 BCOR ITD sarcoma
DOID:0081404 BCOR-CCNB3 sarcoma
-DOID:0070527 Borrelia miyamotoi disease
-DOID:0081250 CIC-rearranged sarcoma
-DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy
-DOID:0081394 Caroli syndrome
-DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma
-DOID:0081071 EZB-MYC- diffuse large B-cell lymphoma
-DOID:2938 Epstein-Barr virus infectious disease
-DOID:0081395 Harel-Yoon syndrome
-DOID:0081370 LADD syndrome
-DOID:0070484 Legius syndrome
-DOID:0111503 Li-Fraumeni syndrome 1
-DOID:0070516 Mitchell syndrome
-DOID:0070439 North Carolina macular dystrophy
-DOID:0070526 PLACK syndrome
-DOID:0070486 Parkinson's disease 25
-DOID:0070475 SMARCB1-deficient renal medullary carcinoma
-DOID:0070509 Schinzel Giedion syndrome
-DOID:0070529 Sifrim-Hitz-Weiss syndrome
-DOID:0112103 Sotos syndrome 1
-DOID:0080817 T2-high asthma
-DOID:0080818 T2-low asthma
-DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias
-DOID:0081415 TFE3-rearranged renal cell carcinoma
+DOID:0070539 Halperin-Birk syndrome
+DOID:0081441 Nicolaides-Baraitser syndrome
+DOID:0081440 Peroxisome biogenesis disorder 10B
+DOID:0081439 Peroxisome biogenesis disorder 11B
+DOID:0081433 Peroxisome biogenesis disorder 4B
+DOID:0081434 Peroxisome biogenesis disorder 5B
+DOID:0081435 Peroxisome biogenesis disorder 6B
+DOID:0081436 Peroxisome biogenesis disorder 7B
+DOID:0081437 Peroxisome biogenesis disorder 8B
+DOID:0081438 Peroxisome biogenesis disorder 9B
+DOID:0081443 Stolerman neurodevelopmental syndrome
DOID:0081414 TFEB-rearranged renal cell carcinoma
-DOID:0081397 Vissers-Bodmer syndrome
-DOID:0070483 Watson syndrome
-DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma
-DOID:0070468 Yoon-Bellen neurodevelopmental syndrome
-DOID:0070473 Zaki syndrome
-DOID:0080816 adult-onset severe asthma
-DOID:0081378 amyotrophic lateral sclerosis type 24
-DOID:0081379 amyotrophic lateral sclerosis type 25
-DOID:0081380 amyotrophic lateral sclerosis type 26
-DOID:0081382 amyotrophic lateral sclerosis type 28
-DOID:0081418 anaplastic sarcoma of the kidney
-DOID:0050640 anauxetic dysplasia 1
-DOID:0070532 aniridia 1
-DOID:0070535 arrhythmogenic biventricular cardiomyopathy
-DOID:0070534 arrhythmogenic left ventricular cardiomyopathy
-DOID:0081256 astrocytoma, IDH-mutant, grade 2
-DOID:0081257 astrocytoma, IDH-mutant, grade 3
-DOID:0080877 astrocytoma, IDH-mutant, grade 4
-DOID:0081383 ataxia-oculomotor apraxia type 4
-DOID:0081384 ataxia-telangiectasia-like disorder-1
-DOID:0081385 ataxia-telangiectasia-like disorder-2
-DOID:0070488 atypical dopamine transporter deficiency syndrome
-DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10
-DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11
-DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13
-DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10
-DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6
-DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7
-DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8
-DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9
-DOID:0080602 benign teratoma
-DOID:0070364 bradyopsia 2
-DOID:0070466 carpal tunnel syndrome 1
-DOID:0070467 carpal tunnel syndrome 2
-DOID:0070528 cepacia syndrome
+DOID:0081442 blepharophimosis-impaired intellectual development syndrome
DOID:0081416 childhood renal cell carcinoma with MiT translocations
DOID:0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion
DOID:0081405 childhood sarcoma with BCOR genetic alterations
-DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
-DOID:0070474 childhood-onset neurodegeneration with brain atrophy
-DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb
-DOID:0070470 chromosome 1p36.33 duplication syndrome
-DOID:0080748 chronic inducible urticaria
-DOID:0080749 chronic spontaneous urticaria
-DOID:0070489 classic dopamine transporter deficiency syndrome
-DOID:0070424 combined oxidative phosphorylation deficiency 44
-DOID:0070425 combined oxidative phosphorylation deficiency 52
-DOID:0070426 combined oxidative phosphorylation deficiency 53
-DOID:0070427 combined oxidative phosphorylation deficiency 54
-DOID:0070428 combined oxidative phosphorylation deficiency 55
-DOID:0070429 combined oxidative phosphorylation deficiency 56
-DOID:0070430 combined oxidative phosphorylation deficiency 57
-DOID:0070257 congenital disorder of glycosylation type IIe
+DOID:2536 chronic inflammatory demyelinating polyneuritis
DOID:4668 congenital kyphosis
-DOID:0081352 congenital myopathy 20
-DOID:0081353 congenital myopathy 21
-DOID:0081354 congenital myopathy 22A
-DOID:0081355 congenital myopathy 22B
-DOID:0081392 corticobasal degeneration syndrome
-DOID:0060912 craniosynostosis 7
-DOID:0070376 developmental and epileptic encephalopathy 31B
-DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies
-DOID:0060930 developmental dysplasia of the hip
-DOID:0060931 developmental dysplasia of the hip 1
-DOID:0060932 developmental dysplasia of the hip 2
-DOID:0080763 diffuse gastric cancer
-DOID:0080880 diffuse glioma, H3 G34 mutant
-DOID:0080684 diffuse midline glioma, H3 K27M-mutant
-DOID:0080578 digenic disease
-DOID:0070476 diphthamide deficiency syndrome
-DOID:0070477 diphthamide deficiency syndrome 1
-DOID:0070478 diphthamide deficiency syndrome 2
-DOID:0081373 disabling pansclerotic morphea
-DOID:0070487 dopamine transporter deficiency syndrome
-DOID:0070445 early-onset dystonia and/or spastic paraplegia
-DOID:0070471 early-onset epilepsy 2
-DOID:0070472 early-onset epilepsy 3
-DOID:0070519 early-onset vitamin B6-dependent epilepsy 4
-DOID:0081359 epidermolytic hyperkeratosis 2
-DOID:0060917 facioscapulohumeral muscular dystrophy 3
-DOID:0060918 facioscapulohumeral muscular dystrophy 4
-DOID:0081420 familial focal epilepsy with variable foci
-DOID:0081421 familial focal epilepsy with variable foci 1
-DOID:0081422 familial focal epilepsy with variable foci 2
-DOID:0081423 familial focal epilepsy with variable foci 3
-DOID:0081424 familial focal epilepsy with variable foci 4
-DOID:0070518 familial multiple lipomatosis
-DOID:0070530 foveal hypoplasia 1
-DOID:0070531 foveal hypoplasia 2
-DOID:0080712 gene duplication disease
-DOID:0070454 hereditary spastic paraplegia 70
-DOID:0070455 hereditary spastic paraplegia 79A
-DOID:0070456 hereditary spastic paraplegia 87
-DOID:0070457 hereditary spastic paraplegia 88
-DOID:0070458 hereditary spastic paraplegia 89
-DOID:0070459 hereditary spastic paraplegia 90A
-DOID:0070460 hereditary spastic paraplegia 90B
-DOID:0081398 holoprosencephaly 12
-DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome
-DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1
-DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2
-DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3
-DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4
-DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5
-DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6
-DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3
-DOID:0070490 infantile parkinsonism-dystonia 2
-DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses
-DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures
-DOID:0080812 intermittent asthma
-DOID:0081381 juvenile amyotrophic lateral sclerosis type 27
-DOID:4667 kyphosis
-DOID:0081371 lacrimoauriculodentodigital syndrome 2
-DOID:0081372 lacrimoauriculodentodigital syndrome 3
-DOID:0070373 leukoencephalopathy with vanishing white matter 2
-DOID:0070372 leukoencephalopathy with vanishing white matter 3
-DOID:0070371 leukoencephalopathy with vanishing white matter 4
-DOID:0070367 leukoencephalopathy with vanishing white matter 5
-DOID:0080894 lipofibromatosis-like neural tumor
-DOID:0081389 logopenic progressive aphasia
-DOID:0070533 long QT syndrome 16
-DOID:0110649 long QT syndrome 8
-DOID:0080704 medulloblastoma SHH activated and TP53 mutant
-DOID:0080705 medulloblastoma SHH activated and TP53 wild-type
-DOID:0080707 medulloblastoma non-WNT/non-SHH group 3
-DOID:0080708 medulloblastoma non-WNT/non-SHH group 4
-DOID:0070508 metabolic dysfunction and alcohol associated liver disease
-DOID:0070446 mitochondrial DNA depletion syndrome 16
-DOID:0070447 mitochondrial DNA depletion syndrome 16B
-DOID:0070448 mitochondrial DNA depletion syndrome 17
-DOID:0070449 mitochondrial DNA depletion syndrome 18
-DOID:0070450 mitochondrial DNA depletion syndrome 19
-DOID:0070451 mitochondrial DNA depletion syndrome 20
-DOID:0070491 mitochondrial complex IV deficiency nuclear type 1
-DOID:0070496 mitochondrial complex IV deficiency nuclear type 10
-DOID:0070497 mitochondrial complex IV deficiency nuclear type 11
-DOID:0070498 mitochondrial complex IV deficiency nuclear type 12
-DOID:0070499 mitochondrial complex IV deficiency nuclear type 14
-DOID:0070500 mitochondrial complex IV deficiency nuclear type 15
-DOID:0070501 mitochondrial complex IV deficiency nuclear type 16
-DOID:0070502 mitochondrial complex IV deficiency nuclear type 17
-DOID:0070503 mitochondrial complex IV deficiency nuclear type 18
-DOID:0070504 mitochondrial complex IV deficiency nuclear type 19
-DOID:0070505 mitochondrial complex IV deficiency nuclear type 20
-DOID:0070506 mitochondrial complex IV deficiency nuclear type 21
-DOID:0070507 mitochondrial complex IV deficiency nuclear type 22
-DOID:0070485 mitochondrial complex IV deficiency nuclear type 23
-DOID:0070492 mitochondrial complex IV deficiency nuclear type 3
-DOID:0070493 mitochondrial complex IV deficiency nuclear type 4
-DOID:0070494 mitochondrial complex IV deficiency nuclear type 7
-DOID:0070495 mitochondrial complex IV deficiency nuclear type 8
-DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
-DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
-DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5
-DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7
-DOID:0080823 near-fatal asthma
-DOID:0081374 nemaline myopathy 5B
-DOID:0081375 nemaline myopathy 5C
-DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
-DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
-DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
-DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
-DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
-DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay
-DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
-DOID:0070444 neurodevelopmental disorder with language delay and seizures
-DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
-DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
-DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
-DOID:0070366 nevoid basal cell carcinoma syndrome 2
-DOID:0080826 nocturnal asthma
-DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111
-DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2
-DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3
-DOID:0081393 organophosphate-induced delayed polyneuropathy
-DOID:0080400 orofacial cleft 7
-DOID:0060920 otosclerosis 1
-DOID:0060927 otosclerosis 10
-DOID:0060928 otosclerosis 11
-DOID:0060921 otosclerosis 2
-DOID:0060922 otosclerosis 3
-DOID:0060923 otosclerosis 4
-DOID:0060924 otosclerosis 5
-DOID:0060925 otosclerosis 7
-DOID:0060926 otosclerosis 8
-DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3
-DOID:0070520 peeling skin syndrome 1
-DOID:0070521 peeling skin syndrome 2
-DOID:0070522 peeling skin syndrome 3
-DOID:0070523 peeling skin syndrome 4
-DOID:0070524 peeling skin syndrome 5
-DOID:0070525 peeling skin syndrome 6
-DOID:0080813 persistent mild asthma
-DOID:0080814 persistent moderate asthma
-DOID:0080824 persistent severe asthma
-DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant
-DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy
-DOID:0081417 poorly differentiated chordoma
-DOID:0081254 posterior fossa group A ependymoma
-DOID:0081255 posterior fossa group B ependymoma
+DOID:0060967 dystonia 22, adult-onset
+DOID:0060966 dystonia 22, juvenile-onset
+DOID:0060936 dystonia 28 childhood-onset
+DOID:0060937 dystonia 30
+DOID:0060938 dystonia 31
+DOID:0060939 dystonia 32
+DOID:0060940 dystonia 33
+DOID:0060955 dystonia 35, childhood-onset
+DOID:0060956 dystonia 37, early-onset with striatal lesions
+DOID:0060963 dystonia, DOPA-responsive
+DOID:0060944 episodic kinesigenic dyskinesia 3
+DOID:0081431 microcephaly, short stature, and limb abnormalities
+DOID:0081432 microcephaly-micromelia syndrome
+DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4
+DOID:0060957 myoclonic dystonia 34
+DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities
DOID:9373 postural kyphosis
-DOID:0081388 primary progressive aphasia
-DOID:0070396 progressive leukoencephalopathy with ovarian failure
-DOID:0081390 progressive non-fluent aphasia
-DOID:0060916 proteasome-associated autoinflammatory syndrome 3
-DOID:0060913 proteosome-associated autoinflammatory syndrome
-DOID:0060914 proteosome-associated autoinflammatory syndrome 2
-DOID:0060915 proteosome-associated autoinflammatory syndrome 4
-DOID:0060919 proteosome-associated autoinflammatory syndrome 5
-DOID:0081413 renal cell carcinoma with MiT translocations
-DOID:0070438 retinal macular dystrophy
-DOID:0070517 retinal macular dystrophy 2
-DOID:0070440 retinal macular dystrophy 3
-DOID:0070441 retinal macular dystrophy 4
DOID:0081408 round cell sarcoma with EWSR1-NFATC2 gene fusion
DOID:0081409 round cell sarcoma with EWSR1-PATZ1 gene fusion
-DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion
DOID:0081410 round cell sarcoma with FUS-NFATC2 gene fusion
-DOID:0081402 sarcoma with BCOR genetic alterations
-DOID:0070480 schwannomatosis 1
-DOID:0070481 schwannomatosis 2
-DOID:0081391 semantic dementia
-DOID:0080897 solitary fibrous tumor/hemangiopericytoma
-DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly
-DOID:0070482 spinal neurofibromatosis
-DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3
-DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive
-DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive
-DOID:0070538 syndromic X-linked intellectual developmental disorder bain type
-DOID:0080856 vascular Parkinsonism
-DOID:0070452 xanthinuria type I
-DOID:0070453 xanthinuria type II
diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv
index a093ef4b..df426c0d 100644
--- a/src/ontology/reports/mirror_signature-doid.tsv
+++ b/src/ontology/reports/mirror_signature-doid.tsv
@@ -2457,6 +2457,18 @@
+
+
+
+
+
+
+
+
+
+
+
+
@@ -2996,6 +3008,7 @@
+
@@ -4380,6 +4393,20 @@
+
+
+
+
+
+
+
+
+
+
+
+
+
+
diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv
index 400b926b..91a787f0 100644
--- a/src/ontology/reports/mirror_signature-mondo.tsv
+++ b/src/ontology/reports/mirror_signature-mondo.tsv
@@ -2073,6 +2073,7 @@
+
@@ -2424,6 +2425,7 @@
+
@@ -3800,6 +3802,7 @@