JSON

spinocerebellar ataxia type 29

Go to external page http://purl.obolibrary.org/obo/MONDO_0007298

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. [ Orphanet:208513 ]

Synonyms: spinocerebellar ataxia type 29 congenital nonprogressive spinocerebellar ataxia SCA29 spinocerebellar ataxia 29, congenital nonprogressive

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050978 (MONDO:equivalentTo)
  • OMIM:117360 (Orphanet:208513/e)
  • Orphanet:208513 (OMIM:117360)
  • SCTID:715825009 (MONDO:equivalentTo)
  • UMLS:C1861732 (Orphanet:208513)
  • GARD:10480 (Orphanet:208513)
  • MESH:C537206 (MONDO:equivalentTo)
  • UMLS:C4274987 (MONDO:equivalentObsolete)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://linkedlifedata.com/resource/umls/id/C1861732

http://www.orpha.net/ORDO/Orphanet_208513

http://identifiers.org/snomedct/715825009

http://purl.obolibrary.org/obo/DOID_0050978

https://omim.org/entry/117360

http://identifiers.org/mesh/C537206

has related synonym

cerebellar ataxia, congenital nonprogressive, autosomal dominant

ACV

spinocerebellar ataxia 29

aplasia of cerebellar vermis

cerebellar ataxia early-onset nonprogressive

cerebellar vermis aplasia

id

MONDO:0007298

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0007298

Term relations