OntologyTerm
Autosomal dominant cerebellar ataxia type 1

released
View JSON
   May 11th, 2017 at 5:01pm

Details

definition 
Autosomal dominant cerebellar ataxia (ADCA) type 1 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. -- 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. (EFO)
namespace 
http://www.orpha.net/ORDO
parents 
  1. no view permissions
preferred_name 
Autosomal dominant cerebellar ataxia type 1
references 
  1. None
source_ontologies 
  1. Experimental Factor Ontology
synonyms 
  1. ADCA1
  2. Autosomal dominant cerebellar ataxia type I
  3. autosomal dominant cerebellar ataxia type I
  4. Cerebellar plus syndrome
  5. ADCAI
  6. autosomal dominant cerebellar ataxia type 1
  7. cerebellar plus syndrome
term_id 
Orphanet:94145
term_name 
Autosomal dominant cerebellar ataxia type 1
term_url 
http://www.orpha.net/ORDO/Orphanet_94145