familial intrahepatic cholestasis 2

Pathology

• intrahepatic cholestasis

Genetics

• associated with defects in ABCB11

Clinical manifestations

• inherited liver disease of childhood

Laboratory

• normal serum gamma-glutamyltransferase activity

More general terms

• familial intrahepatic cholestasis

Database

• OMIM: https://mirror.omim.org/entry/601847