ONTOLOGY REPORT - ANNOTATIONS


Term:sideroblastic anemia
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Accession:DOID:8955 term browser browse the term
Definition:Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow.
Synonyms:exact_synonym: Sideroblastic Anemias;   anemia, hypochromic with iron loading
 narrow_synonym: RARS;   RARS-T;   Refractory anemia with ring sideroblasts and thrombocytosis;   SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC;   refractory anaemia with ringed sideroblasts;   refractory anaemia with sideroblasts
 primary_id: MESH:D000756
 alt_id: RDO:0001845
 xref: GARD:667;   OMIM:PS300751
For additional species annotation, visit the Alliance of Genome Resources.


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sideroblastic anemia 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:11038732
RGD:11554173
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:12904678
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:1599037
RGD:11554173
G Calr calreticulin JBrowse link 19 25,956,771 25,961,666 RGD:11352763
G Gdf15 growth differentiation factor 15 JBrowse link 16 20,555,395 20,557,978 RGD:11554173
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:11554173
G Hspa9 heat shock protein family A (Hsp70) member 9 JBrowse link 18 27,731,072 27,749,235 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062136
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspa9 heat shock protein family A (Hsp70) member 9 JBrowse link 18 27,731,072 27,749,235 RGD:8554872
RGD:7240710
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
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 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:7240710
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:8554872
RGD:7240710
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc11a2 solute carrier family 11 member 2 JBrowse link 7 142,025,812 142,062,892 RGD:7240710
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:11554173
RGD:11035244
RGD:11035243
RGD:11035241
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:8554872
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trnt1 tRNA nucleotidyl transferase 1 JBrowse link 4 138,855,497 138,869,217 RGD:8554872
RGD:7240710
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:8554872
RGD:11554173
RGD:11038735
RGD:11038734
RGD:7240710
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      myelodysplastic syndrome 110
        sideroblastic anemia 14
          African iron overload 0
          Autosomal Sideroblastic Anemia 0
          HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
          Hypochromic Microcytic Anemia with Iron Overload 1 1
          X-linked sideroblastic anemia with ataxia 2
          autosomal dominant sideroblastic anemia 4 1
          autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
          autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
          pyridoxine-responsive sideroblastic anemia 0
          sideroblastic anemia 1 2
          sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Hemic and Lymphatic Diseases 1581
        hematopoietic system disease 1366
          Hematologic Neoplasms 778
            hematologic cancer 777
              bone marrow cancer 282
                myelodysplastic syndrome 110
                  Refractory Anemia 25
                    sideroblastic anemia 14
                      African iron overload 0
                      Autosomal Sideroblastic Anemia 0
                      HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
                      Hypochromic Microcytic Anemia with Iron Overload 1 1
                      X-linked sideroblastic anemia with ataxia 2
                      autosomal dominant sideroblastic anemia 4 1
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
                      pyridoxine-responsive sideroblastic anemia 0
                      sideroblastic anemia 1 2
                      sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.