Search Ontology:
Human Disease

cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

Term ID
DOID:0070148
Synonyms
  • CANVAS
  • hereditary sensory and autonomic neuropathy type 1B
  • hereditary sensory neuropathy type 1B
  • hereditary sensory neuropathy type IB
Definition
A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux. (3)
References
Ontology
Human Disease   ( DOID:0070148 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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