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.
Xenbase Genes : acox2
|MONDO:0015015 - congenital bile acid synthesis defect 6|
|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