Term Name: | sideroblastic anemia 5 |
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Synonyms: | SIDBA5 |
Definition: | 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. |
Ontology: | Human Disease [DOID:0061007] ( DOID:0061007 ) |