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ONTOLOGY REPORT - ANNOTATIONS


Term:Charlevoix-Saguenay spastic ataxia
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Accession:DOID:0050946 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. (DO)
Synonyms:exact_synonym: ARSACS;   SACS;   SPAX6;   Spastic Ataxia Charlevoix-Saguenay Type;   Spastic ataxia 6, autosomal recessive;   autosomal recessive spastic ataxia of Charlevoix-Saguenay;   spastic ataxia of Charlevoix-Saguenay
 primary_id: MESH:C536787
 alt_id: OMIM:270550;   RDO:0002476
 xref: GARD:4910
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Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankfy1 ankyrin repeat and FYVE domain containing 1 JBrowse link 10 59,259,955 59,331,669 RGD:13592920
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:7240710
RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Neurodevelopmental Disorders 4047
        intellectual disability 1685
          spastic ataxia 13
            Charlevoix-Saguenay spastic ataxia 3
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        central nervous system disease 8075
          brain disease 7543
            movement disease 999
              Dyskinesias 709
                Ataxia 300
                  hereditary ataxia 186
                    cerebellar ataxia 169
                      autosomal recessive cerebellar ataxia 58
                        Charlevoix-Saguenay spastic ataxia 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.