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Human Disease

autosomal recessive pyridoxine-refractory sideroblastic anemia 2

Term ID
DOID:0060065
Synonyms
  • autosomal recessive pyridoxine-refractory sideroblastic anaemia 2
  • pyridoxine-refractory autosomal recessive sideroblastic anaemia
  • pyridoxine-refractory autosomal recessive sideroblastic anemia
Definition
A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive
References
Ontology
Human Disease   ( DOID:0060065 )
Relationships
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Genes Involved
Zebrafish Models