Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:arrhythmia
genetic disorder |
| gptkbp:affects |
gptkb:skeletal_muscle
cardiac muscle facial features |
| gptkbp:alsoKnownAs |
gptkb:Andersen-Tawil_syndrome
|
| gptkbp:associatedWith |
muscle weakness
sudden cardiac death clinodactyly hypertelorism low-set ears micrognathia |
| gptkbp:category |
rare disease
channelopathy |
| gptkbp:firstDescribed |
gptkb:Ellen_Andersen
gptkb:Rabi_Tawil 1971 |
| https://www.w3.org/2000/01/rdf-schema#label |
Long QT syndrome type 7
|
| gptkbp:ICD-10_code |
I45.81
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:KCNJ2_gene
|
| gptkbp:OMIM |
170390
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
prolonged QT interval
dysmorphic features periodic paralysis ventricular arrhythmias |
| gptkbp:treatment |
gptkb:implantable_cardioverter-defibrillator
beta blockers potassium supplements |
| gptkbp:bfsParent |
gptkb:Andersen-Tawil_syndrome
|
| gptkbp:bfsLayer |
7
|