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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111066
OMIM:616278
MONDO:0014564
High level summary of knowledge for a disease, including descriptions and datasource references.