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General Information
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| Term |
congenital bile acid synthesis defect 4 |
ID (Ontology) |
DOID:0111068 (Human Disease) |
| Definition |
A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. |
| Also Known As |
"CBAS4" ; "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" ; "trihydroxycoprostanic acid in bile" |
| 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 4 | 1 | for disease ribbon | congenital bile acid synthesis defect 4 | 1 | model of | congenital bile acid synthesis defect 4 | 1 |
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Relationships