Congenital bile acid synthesis defect 3
Congenital bile acid synthesis defect 3
Definition
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.
Also known as BASD3, bile acid synthesis defect, congenital, type 3, CBAS3, congenital bile acid synthesis defect caused by mutation in CYP7B1, congenital bile acid synthesis defect type 3, CYP7B1 congenital bile acid synthesis defect, oxysterol 7-alpha-hydroxylase deficiency — per MONDO