JSON

autosomal dominant cerebellar ataxia

^ http://purl.obolibrary.org/obo/MONDO_0020380

A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. [ https://orcid.org/0000-0001-5208-3432 Orphanet:99 ]

Term info

database cross reference
  • Orphanet:99 (MONDO:equivalentTo)
  • ICD9:334.3 (MONDO:relatedTo)
  • OMIMPS:164400 (MONDO:equivalentTo)
  • DOID:1441 (MONDO:equivalentTo)
  • GARD:0004346 (MONDO:equivalentTo)
  • SCTID:129609000 (MONDO:equivalentTo)
  • UMLS:CN227858 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

abbreviation
ADCA [ Orphanet:99 GARD:0004346 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/pull/2571/

definition

A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN227858, http://purl.obolibrary.org/obo/DOID_1441, http://identifiers.org/snomedct/129609000, https://omim.org/phenotypicSeries/PS164400, http://purl.obolibrary.org/obo/Orphanet_99

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368, http://purl.obolibrary.org/obo/MONDO_0100309, http://purl.obolibrary.org/obo/MONDO_0000437

has broad synonym

SCA, spinocerebellar ataxia

has exact synonym

autosomal dominant spinocerebellar ataxia, cerebellar ataxia, autosomal dominant, ADCA

has related synonym

Pierre Marie cerebellar ataxia (formerly)

id

MONDO:0020380