ONTOLOGY REPORT - ANNOTATIONS


Term:spinocerebellar ataxia type 8
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Accession:DOID:0050959 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene. (DO)
Synonyms:exact_synonym: SCA8;   spinocerebellar ataxia 8
 primary_id: MESH:C537307;   RDO:0003127
 alt_id: OMIM:608768
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spinocerebellar ataxia type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        neurodegenerative disease 2536
          hereditary ataxia 194
            autosomal dominant cerebellar ataxia 62
              spinocerebellar ataxia type 8 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            movement disease 1006
              Dyskinesias 718
                Ataxia 308
                  hereditary ataxia 194
                    cerebellar ataxia 178
                      autosomal dominant cerebellar ataxia 62
                        spinocerebellar ataxia type 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.