congenital bile acid synthesis defect 2
Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.
MONDO:0018841
congenital bile acid synthesis defect
is_a
AKR1D1 congenital bile acid synthesis defect
exact
BASD2
exact
CBAS2
exact
bile acid synthesis defect, congenital, 2
related
bile acid synthesis defect, congenital, type 2
exact
cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
exact
congenital bile acid synthesis defect caused by mutation in AKR1D1
exact
congenital bile acid synthesis defect type 2
exact
congenital bile acid synthesis defect, type 2
related