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HumanDiseaseOntology

Repository for the Human Disease Ontology (DO).

Upcoming Change REMINDER!

Starting with the next release of the Human Disease Ontology (expected at the end of May), the prefix for OMIM cross-references and susceptibilities will be 'MIM', not 'OMIM'. For details refer to #1301. A set of test release files, equivalent to the February DO release with these changes implemented in all production files, is available at https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/mim_test_release/src/ontology.

Acronym annotations NOT included - DO will start annotating acronyms in a later 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.


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 README file for details.

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

DO production has moved to OWL (November 2015). DO's SVN repository has been retired.

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