Mondo Intro & Advantages
A short paragraph explaining the benefits of using Mondo and existing collaborations and alignment with other resources and references.
There are many ontologies and terminologies dedicated to covering different corners of the disease space, from cancer to rare diseases to common diseases. Existing sources of disease definitions include the National Cancer Institute Thesaurus (NCIt), the Online Mendelian Inheritance in Man (OMIM), SNOMED CT, ICD, ICD-O, OncoTree, MedGen, Disease Ontology, Experimental Factor Ontology, and numerous others. The Mondo Disease Ontology (https://mondo.monarchinitiative.org/) integrates the wealth of knowledge from these heterogeneous sources, paying special attention to tracking provenance in how it generates mappings between them, and yielding a logically coherent structure that unifies multiple disease resources. A clearer picture about diseases painted through Mondo has also been elemental in spearheading a call for coordinated efforts to more precisely define rare diseases (https://www.nature.com/articles/d41573-019-00180-y).
Initially seeded by automated mergers of multiple different disease resources, current versions of Mondo are manually curated in order to resolve multiple incoherencies that arise from merging different resources with different perspectives. The Mondo team devised an algorithm kBOOM (k-cluster Bayesian OWL Ontology Merging) that leveraged both deductive OWL reasoning and probabilistic search to find the most likely interpretation of loose mappings derived from multiple sources (https://www.biorxiv.org/content/10.1101/048843v3) (or (Mungall et al. 2016)). Mondo is an open-source, community resource and requests for changes and new terms are tracked on our GitHub tracker (https://github.com/monarch-initiative/mondo).
Mondo is used in a number of bioinformatics resources, including the Monarch Initiative, the Kids First Data Resource Portal, the Clinical Genome Resource (ClinGen), the Experimental Factor Ontology (EFO), and the OpenTargets project, among others. Mondo uses a number of ontologies as sources, or for cross-referencing (xrefs) / alignment. The complete list can be found at https://mondo.monarchinitiative.org/pages/sources/