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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:9536098 PMID:10196363 PMID:11050011 PMID:11843825 More... RGD:1598600, RGD:11038734, RGD:11038735 NCBI chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar NCBI chr 8:119,835,546...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 17205
    syndrome 8125
      myelodysplastic syndrome 234
        sideroblastic anemia 20
          X-linked sideroblastic anemia with ataxia 3
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Hemic and Lymphatic Diseases 2326
        hematopoietic system disease 1908
          Hematologic Neoplasms 967
            hematologic cancer 967
              bone marrow cancer 467
                myelodysplastic syndrome 234
                  Refractory Anemia 31
                    sideroblastic anemia 20
                      X-linked sideroblastic anemia with ataxia 3
paths to the root