Terminology Service for NFDI4Health

autosomal dominant cerebellar ataxia

Go to external page 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 ]

Term info

Label

autosomal dominant cerebellar ataxia

Synonyms
  • ADCA
  • autosomal dominant spinocerebellar ataxia
  • cerebellar ataxia, autosomal dominant
database cross reference
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

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 related synonym

Pierre Marie cerebellar ataxia (formerly)

id

MONDO:0020380

narrowMatch

https://icd.codes/icd10cm/G11.8

see also

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