Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Genetic disorder
|
| gptkbp:affects |
gptkb:Heart
gptkb:Skeletal_muscle |
| gptkbp:alsoKnownAs |
gptkb:Andersen-Tawil_syndrome
|
| gptkbp:associatedWith |
gptkb:Long_QT_syndrome
|
| gptkbp:firstDescribed |
gptkb:Ellen_Andersen
gptkb:Rabi_Tawil |
| https://www.w3.org/2000/01/rdf-schema#label |
LQT7
|
| gptkbp:inheritance |
Autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:KCNJ2_gene
|
| gptkbp:OMIM |
170390
|
| gptkbp:prevalence |
Rare
|
| gptkbp:symptom |
gptkb:Periodic_paralysis
Cardiac arrhythmia Dysmorphic features |
| gptkbp:treatment |
gptkb:Implantable_cardioverter-defibrillator
Beta blockers |
| gptkbp:bfsParent |
gptkb:HGNC:6407
|
| gptkbp:bfsLayer |
6
|