ONTOLOGY REPORT - ANNOTATIONS


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 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
RGD:7240710
RGD:8554872
RGD:11038734
RGD:11038735
RGD:11554173
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 14920
    syndrome 4714
      myelodysplastic syndrome 112
        sideroblastic anemia 14
          X-linked sideroblastic anemia with ataxia 2
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Hemic and Lymphatic Diseases 1591
        hematopoietic system disease 1375
          bone marrow disease 399
            Bone Marrow Neoplasms 288
              bone marrow cancer 288
                myelodysplastic syndrome 112
                  Refractory Anemia 25
                    sideroblastic anemia 14
                      X-linked sideroblastic anemia with ataxia 2
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