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ONTOLOGY REPORT - ANNOTATIONS


Term:sideroblastic anemia 1
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Accession:DOID:0060063 term browser browse the term
Definition:A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. (DO)
Synonyms:exact_synonym: ANH1;   Congenital Sideroblastic Anaemia;   Erythroid 5-Aminolevulinate Synthase Deficiency;   Hereditary Iron-Loading Anemia;   SIDBA1;   X chromosome-linked sideroblastic anemia;   X-linked pyridoxine-responsive sideroblastic anemia;   X-linked sideroblastic anemia;   XLSA;   hereditary sideroblastic anemia;   sex-linked hypochromic sideroblastic anemia
 primary_id: MESH:C536761
 alt_id: OMIM:300751;   RDO:0002440
 xref: GARD:9456
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sideroblastic anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:7240710
RGD:8554872
RGD:11035241
RGD:11035243
RGD:11035244
RGD:11554173
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:8554872

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Term Annotations click to browse term
  disease 15578
    syndrome 5127
      myelodysplastic syndrome 113
        sideroblastic anemia 15
          sideroblastic anemia 1 2
Path 2
Term Annotations click to browse term
  disease 15578
    Nutritional and Metabolic Diseases 4348
      disease of metabolism 4348
        acquired metabolic disease 2686
          nutrition disease 837
            Malnutrition 176
              nutritional deficiency disease 169
                iron deficiency anemia 53
                  microcytic anemia 35
                    hypochromic microcytic anemia 8
                      sideroblastic anemia 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.