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HumanDiseaseOntology

Repository for the Human Disease Ontology (DO).

Announcements

• LIVE as of the May 2024 release -- The prefix for OMIM cross-references and susceptibilities is now 'MIM', not 'OMIM', in the Human Disease Ontology. For details refer to https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/1301.

• LIVE as of the July 2024 release -- Acronyms are now annotated in the DO. For background information refer to https://github.com/information-artifact-ontology/ontology-metadata/issues/135. Note: Acronyms retain their synonym scope (exact, narrow, etc.). This is an additional annotation using owl:Axiom, oboInOwl:hasSynonymType and the new synonym type OMO:0003012 (acronym), e.g.

<owl:Axiom>
	<owl:annotatedSource rdf:resource="http://purl.obolibrary.org/obo/DOID_0040093"/>
	<owl:annotatedProperty rdf:resource="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
	<owl:annotatedTarget xml:lang="en">DIL</owl:annotatedTarget>
	<oboInOwl:hasSynonymType rdf:resource="http://purl.obolibrary.org/obo/OMO_0003012"/>
</owl:Axiom>

Details

DO OBO and OWL files are available in our GitHub repository. The DO provides both the asserted DO is_a hierarchy and inferred versions of our ontology files. Please review our file README for details.

DO website: http://www.disease-ontology.org

DO curation and production moved to OWL, git, and GitHub in November 2015. DO's SVN repository on Sourceforge.net has been retired but is still available for historical reference.

A tutorial describing DO's editorial activities is available at: https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/src/ontology/README-editors.md

Documentation on Disease Ontology web site. Contact: Lynn Schriml