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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: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;   SACS-RELATED CONDITION;   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;   NCI:C154614


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Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKFY1 ankyrin repeat and FYVE domain containing 1 ISO OMIM:270550 MouseDO NCBI chr17:4,217,880...4,316,017
Ensembl chr17:4,209,250...4,307,328 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition OMIM
ClinVar		 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More... NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553 		JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE ClinVar PMID:25326637 PMID:28492532 NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Neurodevelopmental Disorders 6850
        intellectual disability 4322
          spastic ataxia 81
            Charlevoix-Saguenay spastic ataxia 4
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            movement disease 2498
              Dyskinesias 2132
                Ataxia 933
                  hereditary ataxia 637
                    cerebellar ataxia 466
                      autosomal recessive cerebellar ataxia 159
                        Charlevoix-Saguenay spastic ataxia 4
paths to the root