congenital bile acid synthesis defect 3
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.
MONDO:0018841
congenital bile acid synthesis defect
is_a
MONDO:1060107
CYP7B1-related disorder of oxysterol accumulation
is_a
BASD3
exact
CBAS3
exact
CYP7B1 congenital bile acid synthesis defect
exact
bile acid synthesis defect, congenital, 3
related
bile acid synthesis defect, congenital, type 3
exact
congenital bile acid synthesis defect caused by mutation in CYP7B1
exact
congenital bile acid synthesis defect type 3
exact
oxysterol 7-alpha-hydroxylase deficiency
exact