The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts through collaborative efforts of biomedical researchers, coordinated by the University of Maryland School of Medicine, Institute for Genome Sciences.
The Disease Ontology semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI's thesaurus, SNOMED and OMIM.
The Disease Ontology's mission is to provide an open-source ontology that serves as a genomic resource for the integration of biomedical data associated with human disease, disease features and mechanisms; ultimately, serving as a reference framework for multiscale biomedical data integration and analysis towards strengthening the disease information ecosystem.