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autosomal dominant cerebellar ataxia type I

^ http://purl.obolibrary.org/obo/MONDO_0019792

Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. [ Orphanet:94145 ]

Term info

database cross reference
  • UMLS:CN206744 (MONDO:equivalentTo)
  • Orphanet:94145 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
ADCAI [ Orphanet:94145 ]

abbreviation
ADCA1 [ Orphanet:94145 ]

definition

Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_94145, http://linkedlifedata.com/resource/umls/id/CN206744

has exact synonym

cerebellar plus syndrome, ADCA1, autosomal dominant cerebellar ataxia type 1, ADCAI

id

MONDO:0019792

Term relations