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 ×

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

ORPHA:896

Werner syndrome

Adult progeria · WS

ORPHA:902