Providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabularies.

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 with 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.

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Disease Ontology

Use this tool to explore the etiology of human diseases, to see how disease terms relate, and view disease definitions, synonyms and cross-references to other clinical vocabularies.

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Disease Ontology Knowledgebase (DO-KB)

Search and Download disease-data connections through the DO-KB SPARQL Sandbox and mine shared disease features or mechanisms through the DO-KB Faceted Search.

Highlights from the DO User Community

  • Clinical Interpretation of Variants in Cancer (CIViC). https://civicdb.org/diseases/home
  • SVM-DO: identification of tumor-discriminating mRNA signatures via support vector machines supported by Disease Ontology. Özer ME, Özbek Sarica P, Arğa KY. Turk J Biol. 2023 Dec 14;47(6):349-365. doi: 10.55730/1300-0152.2670. PMID:38681779
  • Talking about diseases; developing a model of patient and public-prioritised disease phenotypes. Slater K, et al. NPJ Digit Med. 2024 Sep 30;7(1):263. doi: 10.1038/s41746-024-01257-8. PMID:39349692
  • microRNA-324 mediates bone homeostasis and the regulation of osteoblast and osteoclast differentiation and activity. Hayman DJ, et al. Bone. 2024 Oct 9;190:117273. doi: 10.1016/j.bone.2024.117273. Epub ahead of print. PMID:39383985
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