autosomal dominant cerebellar ataxia type I
Go to external page 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 ]
Synonyms: cerebellar plus syndrome ADCA1 autosomal dominant cerebellar ataxia type 1 ADCAI
Term information
- UMLS:CN206744 (MONDO:equivalentTo)
- GARD:19252 (Orphanet:94145)
- Orphanet:94145 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders
http://linkedlifedata.com/resource/umls/id/CN206744
http://www.orpha.net/ORDO/Orphanet_94145