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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:A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: SIDBA3;   pyridoxine-refractory sideroblastic anemia 3;   sideroblastic anemia-3
 primary_id: OMIM:616860
 alt_id: RDO:9000362


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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 OMIM
ClinVar		 PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More... NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      myelodysplastic syndrome 243
        Refractory Anemia 32
          sideroblastic anemia 21
            autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3850
        hematopoietic system disease 3340
          bone marrow disease 777
            Bone Marrow Neoplasms 509
              bone marrow cancer 509
                myelodysplastic syndrome 243
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
paths to the root