Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:arrhythmia
genetic disorder |
| gptkbp:affectsOrgan |
heart
|
| gptkbp:associatedWith |
gptkb:KCNJ2
|
| gptkbp:hasCausativeMutation |
KCNJ2 gene mutation
|
| gptkbp:hasMIMGeneID |
600681
|
| gptkbp:hasOrphanetID |
ORPHA:101016
|
| https://www.w3.org/2000/01/rdf-schema#label |
Short QT syndrome 3
|
| gptkbp:ICD-10_code |
I49.8
|
| gptkbp:inheritance |
autosomal dominant
familial |
| gptkbp:OMIM |
609622
|
| gptkbp:subclassOf |
gptkb:Short_QT_syndrome
|
| gptkbp:symptom |
gptkb:arrhythmia
sudden cardiac death syncope shortened QT interval |
| gptkbp:treatment |
gptkb:implantable_cardioverter-defibrillator
antiarrhythmic drugs |
| gptkbp:bfsParent |
gptkb:HGNC:6407
|
| gptkbp:bfsLayer |
6
|