Term Name: congenital bile acid synthesis defect
Synonyms: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, CBA, cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
Definition: A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
Ontology: Human Disease [DOID:0050674]   ( DOID:0050674 )

Relationships
is a type of: physical disorder steroid inherited metabolic disorder
has subtype: congenital bile acid synthesis defect 1 congenital bile acid synthesis defect 2 congenital bile acid synthesis defect 3 congenital bile acid synthesis defect 4 congenital bile acid synthesis defect 5 congenital bile acid synthesis defect 6