FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ID (Ontology) DOID:0060065 (Human Disease)
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.
Also Known As "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2" ; "pyridoxine-refractory autosomal recessive sideroblastic anaemia" ; "pyridoxine-refractory autosomal recessive sideroblastic anemia"
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autosomal genetic disease
 |__autosomal recessive disease__
microcytic anemia                |
 |__sideroblastic anemia_________|
                                 autosomal recessive pyridoxine-refractory sideroblastic anemia 2
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Is a autosomal recessive disease
sideroblastic anemia
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Synonyms
  • "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2" EXACT
    "pyridoxine-refractory autosomal recessive sideroblastic anaemia" EXACT
    "pyridoxine-refractory autosomal recessive sideroblastic anemia" EXACT
Secondary IDs
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MIM:205950