progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
MONDO:0002254
syndromic disease
is_a
MONDO:0017290
familial intrahepatic cholestasis
is_a
MONDO:0017755
inborn disorder of bilirubin metabolism
is_a
PFIC
exact
cholestasis, progressive familial intrahepatic
exact
SPBC2D10.14c SPBC1703.15c SPCC663.03 SPCC1919.10c