Congenital Bile Acid Synthesis Defect 6
Disease ID: disease_node_16837
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| Dbxref | MIM:617308 |
|---|---|
| Subclassof | DOID_0050674 |
| Data Source | DOID |
| Synonyms | CBAS6 |
| Doid Label | congenital bile acid synthesis defect 6 |
| Doid Description | 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. |
| Disease Node Id | disease_node_16837 |
| Doid Id | DOID_0111067 |
| Disease Has Basis In | HP_0001197, SO_0001537 |
| Label | Congenital Bile Acid Synthesis Defect 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Bile Acid Synthesis Defect(ID:disease_node_16836) (Disease)