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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
 xref: NCI:C202046

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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 chrNW_004955428:4,458,962...4,550,783
Ensembl chrNW_004955428:4,479,913...4,550,783 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM
ClinVar		 PMID:25741868 PMID:35883251 PMID:36478048 NCBI chrNW_004955443:7,969,117...8,051,734
Ensembl chrNW_004955443:7,983,840...8,051,089 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          Bilateral Vestibulopathy 2
            Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            Otorhinolaryngologic Diseases 1563
              auditory system disease 892
                inner ear disease 582
                  vestibular disease 52
                    Bilateral Vestibulopathy 2
                      Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
paths to the root