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congenital bile acid synthesis defect 5
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.
Uniprot Description An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0014564: congenital bile acid synthesis defect 5