progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
MONDO:0011559
benign recurrent intrahepatic cholestasis type 2
is_a
MONDO:0015762
progressive familial intrahepatic cholestasis
is_a
ABCB11 progressive familial intrahepatic cholestasis
exact
BSEP deficiency
exact
PFIC2
exact
cholestasis, progressive familial intrahepatic 2
exact
cholestasis, progressive familial intrahepatic, 2
related
cholestasis, progressive familial intrahepatic, type 2
exact
progressive familial intrahepatic cholestasis caused by mutation in ABCB11
exact
progressive familial intrahepatic cholestasis type 2
exact
severe ABCB11 deficiency
related
SPCC663.03