congenital bile acid synthesis defect 1
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.
MONDO:0018841
congenital bile acid synthesis defect
is_a
3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of
related
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1
exact
BASD1
exact
CBAS1
exact
HSD3B7 congenital bile acid synthesis defect
exact
bile acid synthesis defect, congenital, 1
related
bile acid synthesis defect, congenital, type 1
exact
congenital bile acid synthesis defect 1
exact
congenital bile acid synthesis defect caused by mutation in HSD3B7
exact
congenital bile acid synthesis defect type 1
exact
congenital bile acid synthesis defect, type 1
related