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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
 broad_synonym: RFC1-related condition
 xref: MIM:614575;   MONDO:0044720;   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 chr 2:137,445,787...137,536,512
Ensembl chr 2:135,294,906...135,385,947 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | ClinVar Annotator: match by term: RFC1-related condition
DNA:repeats:intron:(AAGGG)n (human)
DNA:repeat:intron: 		OMIM
ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:35883251 PMID:36478048 PMID:35970061 More... RGD:401940162, RGD:41404727, RGD:41404728 NCBI chr14:43,319,768...43,395,028
Ensembl chr14:42,966,324...43,041,370 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          Bilateral Vestibulopathy 2
            Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1066
                inner ear disease 738
                  vestibular disease 112
                    Bilateral Vestibulopathy 2
                      Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 2
paths to the root