Terminology Service for NFDI4Health
spinocerebellar ataxia type 17
Go to external page
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. [ ]
Term info
Label
spinocerebellar ataxia type 17
Synonyms
- CPD2
- HDL4
- Huntington disease-like 4
- OPCA V
- OPCA with dementia and extrapyramidal signs
- SCA 17
- SCA17
- cerebelloparenchymal disorder II
- olivopontocerebellar atrophy 5
- olivopontocerebellar atrophy type 5
- spinocerebellar ataxia 17
- spinocerebellar ataxia type 17
Subsets
ordo_disease
exactMatch
http://purl.obolibrary.org/obo/DOID_0050967, 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 related synonym
olivopontocerebellar atrophy V, CPD, late-onset recessive type
id
MONDO:0011781
narrowMatch
https://icd.codes/icd10cm/G11.8
see also
https://github.com/monarch-initiative/mondo/issues/4444, https://github.com/monarch-initiative/mondo/issues/3805