Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
spinocerebellar ataxia |
| gptkbp:affects |
gptkb:cerebellum
|
| gptkbp:alsoKnownAs |
Spinocerebellar ataxia type 17
|
| gptkbp:associatedWith |
cognitive decline
movement disorders |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2003
|
| gptkbp:hasOrphanetID |
ORPHA98753
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCA17
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:TBP_gene
|
| gptkbp:OMIM |
607136
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
progressive
|
| gptkbp:symptom |
gptkb:dementia
ataxia chorea psychiatric symptoms |
| gptkbp:treatment |
symptomatic
|
| gptkbp:bfsParent |
gptkb:Spinocerebellar_Ataxia
gptkb:TBP_gene gptkb:spinocerebellar_ataxia_17 |
| gptkbp:bfsLayer |
7
|