Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. [ Orphanet:98758 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:98758 (OMIM:183086)
  • DOID:0050956 (MONDO:equivalentTo)
  • SCTID:715752006 (MONDO:equivalentTo)
  • UMLS:C0752124 (Orphanet:98758)
  • ICD10:G11.2 (Orphanet:98758)
  • GARD:0010351 (MONDO:equivalentTo)
  • OMIM:183086 (Orphanet:98758)
  • NCIT:C142838 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
SCA6 [ https://omim.org/entry/183086 Orphanet:98758 MONDO:Lexical ]

conformsTo

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

definition

Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C142838

http://purl.obolibrary.org/obo/DOID_0050956

http://identifiers.org/snomedct/715752006

http://www.orpha.net/ORDO/Orphanet_98758

http://identifiers.org/omim/183086

http://linkedlifedata.com/resource/umls/id/C0752124

has exact synonym

spinocerebellar ataxia type 6

CACNA1A autosomal dominant cerebellar ataxia type III

SCA6

autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A

has related synonym

spinocerebellar ataxia 6

id

MONDO:0008457

seeAlso

https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6