congenital bile acid synthesis defect 2

Summary

DOID:0111069 - congenital bile acid synthesis defect 2

Disease Ontology Definition:A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.

Synonyms: CBAS2, 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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009339 - congenital bile acid synthesis defect 2

MONDO:0009339 - congenital bile acid synthesis defect 2

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

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

Parent(s): congenital bile acid synthesis defect (is_a), genetic disease (is_a)