sideroblastic anemia 5

Term ID

DOID:0061007

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. https://pubmed.ncbi.nlm.nih.gov/32634119/

References

• MIM:619523

Ontology

Human Disease   ( DOID:0061007 )