Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0111067 - congenital bile acid synthesis defect 6


Disease Ontology Definition:A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14.

Synonyms: CBAS6

Xenbase Genes : acox2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015015 - congenital bile acid synthesis defect 6

OMIM:
OMIM:617308 - BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Other Model Organisms: AGR, 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)