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ONTOLOGY REPORT - ANNOTATIONS


Term:spinocerebellar ataxia type 7
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Accession:DOID:0050958 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene. (DO)
Synonyms:exact_synonym: ADCA, type II;   OPCA III;   OPCA with macular degeneration and external ophthalmoplegia;   OPCA with retinal degeneration;   OPCA3;   SCA7;   autosomal dominant cerebellar ataxia, type II;   olivopontocerebellar atrophy III;   spinocerebellar ataxia 7
 primary_id: OMIM:164500
 alt_id: RDO:9004681
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spinocerebellar ataxia type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn7 ataxin 7 JBrowse link 15 12,421,432 12,569,649 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        neurodegenerative disease 2694
          hereditary ataxia 186
            autosomal dominant cerebellar ataxia 63
              spinocerebellar ataxia type 7 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            movement disease 1001
              Dyskinesias 711
                Ataxia 302
                  hereditary ataxia 186
                    cerebellar ataxia 169
                      autosomal dominant cerebellar ataxia 63
                        spinocerebellar ataxia type 7 1
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.