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 ×

Free sialic acid storage disease

Free sialic acid storage disorder · FSASD

ORPHA:834

Fetal alcohol syndrome

ARBD · ARND

ORPHA:1915