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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

MIM:619523

Synonyms

SIDBA5 [EXACT]

Parent Relationships

is_a sideroblastic anemia

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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