JSON

spinocerebellar ataxia type 17

^ http://purl.obolibrary.org/obo/MONDO_0011781

A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. [ Orphanet:98759 ]

Term info

database cross reference
  • MESH:C563505 (MONDO:equivalentTo)
  • Orphanet:98759 (OMIM:607136)
  • OMIM:164700 (MONDO:equivalentObsolete)
  • SCTID:719249005 (MONDO:equivalentTo)
  • MESH:C564616 (MONDO:equivalentTo)
  • OMIM:213100 (MONDO:equivalentObsolete)
  • OMIM:607136 (Orphanet:98759/e)
  • UMLS:C1846707 (Orphanet:98759)
  • GARD:0010469 (MONDO:equivalentTo)
  • NCIT:C179861 (MONDO:equivalentTo)
  • UMLS:C1833995 (OMIM:164700)
  • MESH:C565866 (MONDO:equivalentTo)
  • DOID:0050967 (MONDO:equivalentTo)
  • UMLS:C1859299 (OMIM:213100)
Subsets

ordo_disease

abbreviation
CPD2 [ MONDO:Lexical OMIM:213100 ]

abbreviation
SCA17 [ OMIM:607136 MONDO:Lexical Orphanet:98759 ]

abbreviation
OPCA V [ OMIM:164700 ]

abbreviation
HDL4 [ Orphanet:98759 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4444, https://github.com/monarch-initiative/mondo/issues/3805

definition

A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050967, http://purl.obolibrary.org/obo/NCIT_C179861, http://linkedlifedata.com/resource/umls/id/C1833995, http://identifiers.org/mesh/C563505, http://identifiers.org/mesh/C564616, http://identifiers.org/snomedct/719249005, http://purl.obolibrary.org/obo/Orphanet_98759, http://identifiers.org/mesh/C565866, http://linkedlifedata.com/resource/umls/id/C1846707, http://linkedlifedata.com/resource/umls/id/C1859299, https://omim.org/entry/607136

has exact synonym

OPCA V, cerebelloparenchymal disorder II, CPD2, SCA 17, olivopontocerebellar atrophy 5, spinocerebellar ataxia type 17, HDL4, SCA17, spinocerebellar ataxia 17, olivopontocerebellar atrophy type 5, OPCA with dementia and extrapyramidal signs, Huntington disease-like 4

has related synonym

olivopontocerebellar atrophy V, CPD, late-onset recessive type

id

MONDO:0011781