Congenital Bile Acid Synthesis Defect 5
Disease ID: disease_node_16838
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| Dbxref | MIM:616278 |
|---|---|
| Subclassof | DOID_0050674 |
| Data Source | DOID |
| Synonyms | CBAS5 |
| Doid Label | congenital bile acid synthesis defect 5 |
| Doid Description | A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. |
| Has Symptom | SYMP_0000470 |
| Disease Node Id | disease_node_16838 |
| Doid Id | DOID_0111066 |
| Disease Has Basis In | HP_0001197, SO_0001537 |
| Label | Congenital Bile Acid Synthesis Defect 5 |
- Outgoing r'ship
HAS_SYMPTOMto/from Left Upper Quadrant Abdominal Rigidity(ID:disease_node_21557) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Bile Acid Synthesis Defect(ID:disease_node_16836) (Disease)