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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
 primary_id: MESH:C567145
 alt_id: OMIM:205950;   RDO:0015299
For additional species annotation, visit the Alliance of Genome Resources.


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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 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by OMIM:205950
ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive
OMIM
ClinVar
PMID:19412178, PMID:21393332, PMID:25326635, PMID:25741868, PMID:25985931, PMID:28492532 NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      myelodysplastic syndrome 110
        sideroblastic anemia 16
          autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Hemic and Lymphatic Diseases 2046
        hematopoietic system disease 1641
          Hematologic Neoplasms 834
            Bone Marrow Neoplasms 347
              bone marrow cancer 347
                myelodysplastic syndrome 110
                  Refractory Anemia 27
                    sideroblastic anemia 16
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.