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"

6 matching diseasesClear search ×

Progressive familial intrahepatic cholestasis type 2

BSEP deficiency · PFIC2

ORPHA:79304

Progressive familial intrahepatic cholestasis

PFIC

ORPHA:172

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

ORPHA:79306

Progressive familial intrahepatic cholestasis type 3

PFIC3

ORPHA:79305

Progressive familial intrahepatic cholestasis type 4

TJP2 deficit · PFIC4

ORPHA:480483

Progressive familial intrahepatic cholestasis type 5

NR1H4 deficiency · PFIC5

ORPHA:480476