Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:neurological_disorder |
| gptkbp:associatedWith |
gptkb:NKX2-1
|
| gptkbp:complication |
respiratory problems
thyroid dysfunction |
| gptkbp:firstDescribed |
1967
|
| gptkbp:frequency |
rare
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
118700
|
| gptkbp:onset |
childhood
|
| gptkbp:prognosis |
non-progressive
|
| gptkbp:symptom |
hypotonia
gait disturbance chorea dysarthria |
| gptkbp:synonym |
NKX2-1-related disorder
familial chorea |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:NKX2-1
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
benign hereditary chorea
|