| Metadata | |
|---|---|
| ID | DOID:0070148 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070148 Copy |
| Name | cerebellar ataxia, neuropathy, and vestibular areflexia syndrome |
| 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC8262986/, https://pubmed.ncbi.nlm.nih.gov/32873692/, https://pubmed.ncbi.nlm.nih.gov/41084404/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:1236804009 SNOMEDCT_US_2025_09_01:717825008 |
| SKOS |
exactMatch MIM:614575 broadMatch ICD10CM:G11.2 broadMatch ICD10CM:G60.8 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CANVAS [EXACT] hereditary sensory and autonomic neuropathy type 1B [EXACT] hereditary sensory neuropathy type 1B [EXACT] hereditary sensory neuropathy type IB [EXACT] |
| Parent Relationships |
is_a syndrome |