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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:X-linked sideroblastic anemia with ataxia
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Accession:DOID:0050554 term browser browse the term
Definition:A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO)
Synonyms:exact_synonym: ASAT;   Pagon Bird Detter syndrome;   X-linked sideroblastic anaemia and ataxia;   X-linked sideroblastic anaemia with ataxia;   X-linked sideroblastic anemia and ataxia;   XLSA-A;   sex-linked hypochromic sideroblastic anemia;   sideroblastic anemia and ataxia;   sideroblastic anemia and spinocerebellar ataxia;   sideroblastic anemia with spinocerebellar ataxia
 primary_id: MESH:C536358
 alt_id: DOID:0060064;   OMIM:301310;   RDO:0001914;   RDO:9004709
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
ClinVar Annotator: match by OMIM:301310
DNA:missense mutation:exon:p.E433K (1305G>A) (human)
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar Annotator: match by term: Anemia sideroblastic and spinocerebellar ataxia
ClinVar
OMIM
CTD
PMID:4045952, PMID:10196363, PMID:11050011, PMID:11843825, PMID:21326867, PMID:22398176, PMID:25741868, PMID:28492532, PMID:10196363, PMID:11050011, PMID:11843825 RGD:1598600, RGD:11038734, RGD:11038735 NCBI chr  X:75,150,511...75,291,950
Ensembl chr  X:75,150,608...75,291,938
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar 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 16058
    syndrome 6996
      myelodysplastic syndrome 111
        sideroblastic anemia 16
          X-linked sideroblastic anemia with ataxia 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          Hematologic Neoplasms 836
            hematologic cancer 836
              bone marrow cancer 347
                myelodysplastic syndrome 111
                  Refractory Anemia 27
                    sideroblastic anemia 16
                      X-linked sideroblastic anemia with ataxia 3
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.