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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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Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      myelodysplastic syndrome 228
        Refractory Anemia 29
          sideroblastic anemia 18
            autosomal recessive pyridoxine-refractory sideroblastic anemia 3 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Hemic and Lymphatic Diseases 3445
        hematopoietic system disease 2990
          bone marrow disease 685
            Bone Marrow Neoplasms 440
              bone marrow cancer 440
                myelodysplastic syndrome 228
                  Refractory Anemia 29
                    sideroblastic anemia 18
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 3 0
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