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Summary Literature (0)
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 : abcd3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014564 - congenital bile acid synthesis defect 5


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)