HumanDiseaseOntology

Repository for the Human Disease Ontology (DO).

Announcements

NOW LIVE in 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.

Upcoming Change REMINDER: Acronym annotations COMING SOON! -- DO will start annotating acronyms in an upcoming release (possibly as early as June). A set of test release files, equivalent to the February DO release with some acronyms annotated in all production files, is available at https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/acronym_test/src/ontology.

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 DO's SVN repository on Sourceforge.net has been retired but is still available for historical reference.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