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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive pyridoxine-refractory sideroblastic anemia 2
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Accession:DOID:0060065 term browser browse the term
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. (DO)
Synonyms:exact_synonym: SIDBA2;   pyridoxine-refractory autosomal recessive sideroblastic anemia;   pyridoxine-refractory sideroblastic anemia 2
 primary_id: MESH:C567145
 alt_id: OMIM:205950;   RDO:0015299
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autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:8554872
RGD:11554173
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      myelodysplastic syndrome 113
        sideroblastic anemia 15
          autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          bone marrow disease 402
            Bone Marrow Neoplasms 290
              bone marrow cancer 290
                myelodysplastic syndrome 113
                  Refractory Anemia 26
                    sideroblastic anemia 15
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.