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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;   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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ISS OMIM:270550 MouseDO NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia OMIM
ClinVar
PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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 chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Neurodevelopmental Disorders 6187
        intellectual disability 3972
          spastic ataxia 81
            Charlevoix-Saguenay spastic ataxia 3
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Dyskinesias 1394
                Ataxia 546
                  hereditary ataxia 405
                    cerebellar ataxia 280
                      autosomal recessive cerebellar ataxia 157
                        Charlevoix-Saguenay spastic ataxia 3
paths to the root