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 1

WS1 · Waardenburg syndrome type I

ORPHA:894

Werner syndrome

Adult progeria · WS

ORPHA:902