Category · 4 resources

Phenotype, pathway & integrative

Pathway databases, phenotype platforms and the metathesaurus that holds the rest together. The connective tissue across everything else in this registry.

Reactome

reactome.org
Curated pathway database

A curated pathway database that includes disease-related pathway variants showing how mutations perturb normal molecular processes.

See alsoKEGG DISEASE · HPO

Monarch Initiative

monarchinitiative.org
Integrative phenotype platform

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.

See alsoMondo Disease Ontology · HPO · OMIM