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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 chr10:59,259,955...59,331,669
Ensembl chr10:59,259,955...59,331,669
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type
ClinVar Annotator: match by OMIM:270550
OMIM
ClinVar
PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16198375 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18484239 PMID:18569450 PMID:18604465 PMID:19208651 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22287014 PMID:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:24033266 PMID:24108619 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24457356 PMID:25237835 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26539891 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27433545 PMID:27980752 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:28972115 PMID:29220673 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29968200 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30901567 PMID:31673878 PMID:32488064 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Neurodevelopmental Disorders 5663
        intellectual disability 3433
          spastic ataxia 25
            Charlevoix-Saguenay spastic ataxia 3
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            movement disease 1352
              Dyskinesias 1020
                Ataxia 472
                  hereditary ataxia 333
                    cerebellar ataxia 277
                      autosomal recessive cerebellar ataxia 154
                        Charlevoix-Saguenay spastic ataxia 3
paths to the root