Structured catalogues of human disease. Integrative compendia, controlled vocabularies and clinical terminologies that turn 'a disease' into something a machine — and a colleague at another institution — can name unambiguously.
Built on the GeneCards architecture, MalaCards integrates data on human diseases from roughly 70 sources into 'disease cards' covering aliases, genes, pathways, drugs, clinical trials, phenotypes and variants. Catalogues tens of thousands of disease entries across anatomical and global categories.
A long-running medical reference linking thousands of diseases, symptoms, medications and chemicals into a cross-referenced web. Included in the UMLS Metathesaurus and useful for quick lookup of differential-diagnosis relationships.
A community-driven ontology providing standardised, semantically consistent descriptions of human diseases with cross-references to ICD, MeSH, SNOMED, OMIM, NCI and others. Underpins many downstream tools that need a single canonical disease vocabulary.
Built by the Monarch Initiative, Mondo merges and harmonises terms from DO, Orphanet, OMIM, ICD, MeSH, NCIt, MedGen and EFO. Increasingly the reference vocabulary for cross-database disease integration in research.
Primarily clinical terminologies rather than research databases — yet SNOMED CT and the WHO's International Classification of Diseases (ICD-10 in widespread use, ICD-11 in adoption) are the backbone disease vocabularies for electronic health records, mortality statistics and billing worldwide.