Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

2 matching diseasesClear search ×

Classic heparin-induced thrombocytopenia

Classic heparin-associated thrombocytopenia · Classic HAT

ORPHA:3325

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

ORPHA:1474