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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
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 6:123,988,169...123,998,545
Ensembl chr 6:123,988,134...123,998,545
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | 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:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      myelodysplastic syndrome 242
        Refractory Anemia 32
          sideroblastic anemia 21
            autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Hemic and Lymphatic Diseases 3313
        hematopoietic system disease 2848
          bone marrow disease 794
            Bone Marrow Neoplasms 481
              bone marrow cancer 481
                myelodysplastic syndrome 242
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 2 2
paths to the root