congenital bile acid synthesis defect 1

Summary

DOID:0111071 - congenital bile acid synthesis defect 1

Disease Ontology Definition:A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.

Synonyms: CBAS1

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

: hsd3b7

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011906 - congenital bile acid synthesis defect 1

MONDO:0011906 - congenital bile acid synthesis defect 1

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)