| Metadata | |
|---|---|
| ID | DOID:0061007 |
| Name | sideroblastic anemia 5 |
| 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. https://pubmed.ncbi.nlm.nih.gov/32634119/ |
| Xrefs | |
| Synonyms |
SIDBA5 [EXACT] |
| Parent Relationships |
is_a sideroblastic anemia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |