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 ×

Stickler syndrome

Hereditary progressive arthroophthalmopathy

ORPHA:828

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

ORPHA:871