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ONTOLOGY REPORT - ANNOTATIONS


Term:spinocerebellar ataxia type 2
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Accession:DOID:0050955 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene. (DO)
Synonyms:exact_synonym: OPCA2;   SCA2;   olivopontocerebellar atrophy 2;   olivopontocerebellar atrophy II;   olivopontocerebellar atrophy, Holguin type;   spinocerebellar ataxia 2;   spinocerebellar ataxia with slow eye movements;   spinocerebellar ataxia, Cuban type;   spinocerebellar atrophy 2;   spinocerebellar atrophy II;   spinocerebellar degeneration with slow eye movements
 primary_id: OMIM:183090
 alt_id: RDO:9003726
For additional species annotation, visit the Alliance of Genome Resources.


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spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn2 ataxin 2 JBrowse link 12 40,264,601 40,335,637 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15578
    syndrome 5127
      multiple system atrophy 29
        olivopontocerebellar atrophy 10
          spinocerebellar ataxia type 2 1
Path 2
Term Annotations click to browse term
  disease 15578
    disease of anatomical entity 14907
      nervous system disease 10189
        central nervous system disease 8067
          brain disease 7535
            movement disease 998
              Dyskinesias 709
                Ataxia 300
                  hereditary ataxia 186
                    cerebellar ataxia 169
                      autosomal dominant cerebellar ataxia 63
                        spinocerebellar ataxia type 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.