congenital bile acid synthesis defect 5

Summary

DOID:0111066 - congenital bile acid synthesis defect 5

Disease Ontology Definition:A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.

Synonyms: CBAS5,

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

: abcd3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014564 - congenital bile acid synthesis defect 5

MONDO:0014564 - congenital bile acid synthesis defect 5

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)