Biological and Medical Ontologies: Disease Ontology (DO)

Abstract The Disease Ontology (DO) is a community-driven, open source ontology designed for the semantic integration of biomedical datasets that are associated with human disease, under the principles of the Open Biomedical Ontologies Foundry. The DO includes almost 11,000 disease and disease-related concepts organized by disease etiology, structured in a Directed Acyclic Graph, and linked through is_a relationships. The DO project was first developed at Northwestern University in 2003 and has since then provided a backbone resource that unifies the representation of human common and rare diseases, by exploiting extensive cross-mapping with other pre-existing and contemporary disease vocabularies.

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