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 ×

Non-involuting congenital hemangioma

NICH

ORPHA:141179

Neonatal intrahepatic cholestasis due to citrin deficiency

NICCD · Neonatal intrahepatic cholestasis caused by citrin deficiency

ORPHA:247598