ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive pyridoxine-refractory sideroblastic anemia 3
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Accession:DOID:0080343 term browser browse the term
Definition:Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood and refractoriness to pyridoxine treatment. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit. (OMIM)
Synonyms:exact_synonym: SIDBA3;   pyridoxine-refractory sideroblastic anemia 3;   sideroblastic anemia-3
 primary_id: OMIM:616860
 alt_id: DOID:9000521;   RDO:9000362
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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

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Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      myelodysplastic syndrome 110
        sideroblastic anemia 14
          autosomal recessive pyridoxine-refractory sideroblastic anemia 3 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
          bone marrow disease 393
            Bone Marrow Neoplasms 282
              bone marrow cancer 282
                myelodysplastic syndrome 110
                  Refractory Anemia 25
                    sideroblastic anemia 14
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.