Metadata | |
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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 |