/congenital bile acid synthesis defect 3

congenital bile acid synthesis defect 3

Rare Disease

MONDO:0013439

Also Known As

BASD3CBAS3CYP7B1 congenital bile acid synthesis defectbile acid synthesis defect, congenital, type 3congenital bile acid synthesis defect caused by mutation in CYP7B1congenital bile acid synthesis defect type 3oxysterol 7-alpha-hydroxylase deficiencybile acid synthesis defect, congenital, 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.