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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: RDO:9000362
For additional species annotation, visit the Alliance of Genome Resources.

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autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Sideroblastic anemia 3, pyridoxine-refractory ClinVar
OMIM		 PMID:17485548 PMID:20364084 PMID:25342667 PMID:26100117 PMID:30660387 NCBI chr 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      myelodysplastic syndrome 115
        sideroblastic anemia 20
          autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1659
          Hematologic Neoplasms 838
            Bone Marrow Neoplasms 351
              bone marrow cancer 351
                myelodysplastic syndrome 115
                  Refractory Anemia 31
                    sideroblastic anemia 20
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
paths to the root