Part of the KEGG suite, catalogues human diseases linked to KEGG pathways, drug targets and genes, with a heavy emphasis on systems-level disease mechanisms.
Phenotype, pathway & integrative
Pathway databases, phenotype platforms and the metathesaurus that holds the rest together. The connective tissue across everything else in this registry.
A curated pathway database that includes disease-related pathway variants showing how mutations perturb normal molecular processes.
An integrative cross-species platform bringing together phenotype, gene, variant and disease data from many sources (HPO, Mondo, ClinVar, OMIM, model-organism databases) to support diagnosis and translational research — especially for rare disease.
Not a disease database per se, but the NLM's Metathesaurus unifies more than 200 biomedical vocabularies (SNOMED CT, MeSH, ICD, RxNorm, LOINC and others) — the connective tissue across virtually every disease database in this registry.