congenital bile acid synthesis defect

Introduction

Includes:

• congenital bile acid synthesis defect type 2

More general terms

• enzyme deficiency
• inborn error of metabolism
• liver disease

More specific terms

• congenital bile acid synthesis defect type 2; cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency

Database

• OMIM: https://mirror.omim.org/entry/235555