Disease Ontology
paper - An ontology of human diseases. Has cross-links to MeSH, ICD, NCI Thesaurus, SNOMED, and OMIM. Public domain. Available on GitHub and on the OBO Foundry.
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- 2026-10-10
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NCBI Disease Corpus ncbi.nlm.nih.gov
paper - A corpus of 793 biomedical abstracts annotated with names of diseases and related concepts from MeSH and OMIM.
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Human Phenotype Ontology (HPO) hpo.jax.org
Standardized vocabulary of phenotypic abnormalities in human disease, linking genes, variants, and clinical features.
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Comparative Toxicogenomics Database ctdbase.org
paper - A database of manually curated associations between chemicals, gene products, phenotypes, diseases, and environmental exposures. Useful for assembling ontologies of the related concepts, such as types of chemicals.
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UMLS Semantic Network semanticnetwork.nlm.nih.gov
paper - Lists of 133 semantic types and 54 semantic relationships covering biomedical concepts and vocabulary. Is the Metathesaurus too complex for your needs? Try this. Does not require UTS account to download.
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DNorm ncbi.nlm.nih.gov
paper - A method for disease normalization, i.e., linking mentions of disease names and acronyms to unique concept identifiers. Downloadable version includes the NCBI Disease Corpus and BC5CDR (see Annotated Text Data below).
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Biomedical Information Extraction › Ontologies and Controlled Vocabularies: “paper - An ontology of human diseases. Has cross-links to MeSH, ICD, NCI Thesaurus, SNOMED, and OMIM. Public domain. Available on GitHub and on the OBO Foundry.”