Sideroblastic Anemia 5
Disease ID: disease_node_15254
Connections displayed (default: 10).
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| Dbxref | MIM:619523 |
|---|---|
| Subclassof | DOID_0050737, DOID_8955 |
| Data Source | DOID |
| Synonyms | SIDBA5 |
| Doid Label | sideroblastic anemia 5 |
| Doid Description | A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. Only 1 patient has been reported, 11/12/2024. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15254 |
| Doid Id | DOID_0061007 |
| Label | Sideroblastic Anemia 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Anemia, Sideroblastic(ID:disease_node_1208) (Disease)