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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. [ Orphanet:99 https://orcid.org/0000-0001-5208-3432 ]

Synonyms: Autosomal Dominant Hereditary Ataxia autosomal dominant spinocerebellar ataxia cerebellar ataxia, autosomal dominant ADCA

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:129609000 (MONDO:equivalentTo)
  • DOID:1441 (MONDO:equivalentTo)
  • Orphanet:99 (MONDO:equivalentTo)
  • MEDGEN:1684639 (MONDO:equivalentTo)
  • ICD9:334.3 (MONDO:relatedTo)
  • UMLS:C4087347 (MONDO:equivalentTo)
  • GARD:4346 (MONDO:GARD)
  • NORD:825 (MONDO:NORD)
  • OMIMPS:164400 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

abbreviation
ADCA [ GARD:0004346 Orphanet:99 ]

exactMatch

http://identifiers.org/medgen/1684639

http://linkedlifedata.com/resource/umls/id/C4087347

http://purl.obolibrary.org/obo/DOID_1441

http://identifiers.org/snomedct/129609000

http://www.orpha.net/ORDO/Orphanet_99

https://omim.org/phenotypicSeries/PS164400

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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

term tracker item

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