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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:pyridoxine-responsive sideroblastic anemia
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Accession:DOID:0060066 term browser browse the term
Definition:A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance. (DO)
Synonyms:exact_synonym: Anemia, Congenital Sideroblastic, B6-Responsive;   pyridoxine-responsive sideroblastic anemia, autosomal recessive
 primary_id: MESH:C565954
 alt_id: OMIM:206000


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      myelodysplastic syndrome 243
        Refractory Anemia 32
          sideroblastic anemia 21
            pyridoxine-responsive sideroblastic anemia 0
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      Hemic and Lymphatic Diseases 3860
        hematopoietic system disease 3351
          bone marrow disease 780
            Bone Marrow Neoplasms 509
              bone marrow cancer 509
                myelodysplastic syndrome 243
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      pyridoxine-responsive sideroblastic anemia 0
paths to the root