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Term:X-linked sideroblastic anemia with ataxia
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Accession:DOID:0050554 term browser browse the term
Definition:A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO)
Synonyms:exact_synonym: ASAT;   Pagon Bird Detter syndrome;   X-linked sideroblastic anaemia and ataxia;   X-linked sideroblastic anaemia with ataxia;   X-linked sideroblastic anemia and ataxia;   XLSA-A;   sex-linked hypochromic sideroblastic anemia;   sideroblastic anemia and ataxia;   sideroblastic anemia and spinocerebellar ataxia;   sideroblastic anemia with spinocerebellar ataxia
 primary_id: MESH:C536358
 alt_id: DOID:0060064;   OMIM:301310;   RDO:0001914;   RDO:9004709
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X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:1598600
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:8554872

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Term Annotations click to browse term
  disease 15608
    syndrome 5790
      myelodysplastic syndrome 106
        sideroblastic anemia 15
          X-linked sideroblastic anemia with ataxia 2
Path 2
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      Hemic and Lymphatic Diseases 1896
        hematopoietic system disease 1541
          Hematologic Neoplasms 811
            hematologic cancer 811
              bone marrow cancer 317
                myelodysplastic syndrome 106
                  Refractory Anemia 26
                    sideroblastic anemia 15
                      X-linked sideroblastic anemia with ataxia 2
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