congenital bile acid synthesis defect

Summary

DOID:0050674 - congenital bile acid synthesis defect

Disease Ontology Definition:A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.

Synonyms: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency, CBA, cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: akr1d1, abcd3, hsd3b7, amacr, acox2, cyp7b1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018841 - congenital bile acid synthesis defect

MONDO:0018841 - congenital bile acid synthesis defect

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): physical disorder (is_a), steroid inherited metabolic disorder (is_a)