JSON

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

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1842696 (MONDO:equivalentTo)
  • UMLS:C5680259 (MONDO:equivalentTo)
  • GARD:19252 (MONDO:GARD)
  • Orphanet:94145 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

abbreviation
ADCA1 [ Orphanet:94145 ]

abbreviation
ADCAI [ Orphanet:94145 ]

exactMatch

http://identifiers.org/medgen/1842696

http://linkedlifedata.com/resource/umls/id/C5680259

http://www.orpha.net/ORDO/Orphanet_94145

id

MONDO:0019792

Term relations