progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
MONDO:0015762
progressive familial intrahepatic cholestasis
is_a
ABCB4 progressive familial intrahepatic cholestasis
exact
MDR3 Deficiency
exact
PFIC3
exact
cholestasis, progressive familial intrahepatic 3
exact
cholestasis, progressive familial intrahepatic, 3
related
cholestasis, progressive familial intrahepatic, type 3
exact
progressive familial intrahepatic cholestasis caused by mutation in ABCB4
exact
progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase
related
SPCC663.03