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congenital bile acid synthesis defect 6
Summary
- Synonym
-
- 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.
- Super Class
- congenital bile acid synthesis defect
External Links
- Disease Ontology
- DOID:0111067
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001350 | Slurred speech |
| HP:0001251 | Ataxia |
| HP:0100512 | Decreased circulating vitamin D concentration |
| HP:0000511 | Vertical supranuclear gaze palsy |
| HP:0002570 | Steatorrhea |
| HP:0001263 | Global developmental delay |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002066 | Gait ataxia |
| HP:0001256 | Intellectual disability, mild |
| HP:0003593 | Infantile onset |
