congenital bile acid synthesis defect 6

Summary

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 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

: acox2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0015015 - congenital bile acid synthesis defect 6

MONDO:0015015 - congenital bile acid synthesis defect 6

MIM:

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

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

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)