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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:Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
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Accession:DOID:9009139 term browser browse the term
Definition:An adult-onset slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy. CANVAS is caused by a homozygous repeat expansion (AAGGG(n)) in the RFC1 gene (102579) on chromosome 4p14. The reference allele is a simple tandem pentanucleotide AAAAG repeat of 11 (AAAAG(11)), whereas the expansion size ranges from about 400 to 2,000 repeats, with the majority of cases having about 1,000 repeats. (OMIM)
Synonyms:exact_synonym: CANVAS
 primary_id: OMIM:614575
For additional species annotation, visit the Alliance of Genome Resources.



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Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf2 E74 like ETS transcription factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947
JBrowse link
G Rfc1 replication factor C subunit 1 ISO DNA:repeat:intron:
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
OMIM
ClinVar
RGD
PMID:25741868 PMID:30926972 PMID:32040566 RGD:41404727, RGD:41404728 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        Neurologic Manifestations 6148
          Bilateral Vestibulopathy 2
            Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        central nervous system disease 11306
          brain disease 10593
            movement disease 1740
              Dyskinesias 1393
                Ataxia 544
                  hereditary ataxia 404
                    cerebellar ataxia 281
                      Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
paths to the root