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 ×

Intrahepatic cholestasis of pregnancy

Gravidic intrahepatic cholestasis · Pregnancy-related cholestasis

ORPHA:69665

Low phospholipid-associated cholelithiasis

LPAC · ABCB4-related cholelithiasis

ORPHA:69663