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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 2
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Accession:DOID:0060065 term browser browse the term
Definition:A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. (DO)
Synonyms:exact_synonym: SIDBA2;   autosomal recessive pyridoxine-refractory sideroblastic anaemia 2;   pyridoxine-refractory autosomal recessive sideroblastic anaemia;   pyridoxine-refractory autosomal recessive sideroblastic anemia;   pyridoxine-refractory sideroblastic anemia 2
 xref: MESH:C567145;   MIM:205950;   MONDO:0008785


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autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:129,752,840...129,763,278 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 8:128,713,180...128,725,968
Ensembl chr 8:128,713,131...128,725,966 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      myelodysplastic syndrome 241
        Refractory Anemia 32
          sideroblastic anemia 21
            autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          bone marrow disease 830
            Bone Marrow Neoplasms 506
              bone marrow cancer 506
                myelodysplastic syndrome 241
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
paths to the root