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General Information
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| Term |
congenital bile acid synthesis defect 5 |
ID (Ontology) |
DOID:0111066 (Human Disease) |
| 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. |
| Also Known As |
"CBAS5" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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congenital bile acid synthesis defect 5 | 1 | for disease ribbon | congenital bile acid synthesis defect 5 | 1 | model of | congenital bile acid synthesis defect 5 | 1 |
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Relationships