cholestasis, progressive familial intrahepatic, 5
Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.
MONDO:0015762
progressive familial intrahepatic cholestasis
is_a
NR1H4 deficiency
exact
NR1H4 progressive familial intrahepatic cholestasis
exact
PFIC5
exact
cholestasis, progressive familial intrahepatic, 5
exact
cholestasis, progressive familial intrahepatic, 5; PFIC5
exact
cholestasis, progressive familial intrahepatic, type 5
exact
progressive familial intrahepatic cholestasis caused by mutation in NR1H4
exact