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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99424 | Peroxisomal acyl-coenzyme A oxidase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000750 | Delayed speech and language development |
| HP:0001310 | Dysmetria |
