Search Ontology:
Human Disease
congenital bile acid synthesis defect 6
- Term ID
- DOID:0111067
- Synonyms
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- CBAS6
- Definition
- A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. (2)
- References
- Ontology
- Human Disease ( DOID:0111067 )
- is a type of
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- inverse disjoint_from
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