Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurodegenerative disease
spinocerebellar ataxia |
| gptkbp:abbreviation |
gptkb:SCA17
|
| gptkbp:affects |
gptkb:nervous_system
gptkb:cerebellum |
| gptkbp:causedBy |
mutation in TBP gene
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
spinocerebellar ataxia 17
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
607136
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:symptom |
gptkb:dementia
ataxia parkinsonism chorea dysarthria |
| gptkbp:bfsParent |
gptkb:TBP
|
| gptkbp:bfsLayer |
6
|