Statements (31)
Predicate | Object |
---|---|
gptkbp:instanceOf |
rare disease
|
gptkbp:affects |
gptkb:skeletal_muscle
heart facial structure |
gptkbp:alsoKnownAs |
gptkb:Long_QT_syndrome_type_7
|
gptkbp:category |
muscular dystrophy
cardiac disorder channelopathy |
gptkbp:characterizedBy |
cardiac arrhythmias
distinctive facial and skeletal features periodic paralysis |
gptkbp:diagnosedBy |
genetic testing
electrocardiogram |
gptkbp:firstDescribed |
gptkb:Ellen_Andersen
gptkb:Rabi_Tawil |
gptkbp:frequency |
very rare
|
https://www.w3.org/2000/01/rdf-schema#label |
Andersen-Tawil syndrome
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:mutationAssociatedWith |
gptkb:KCNJ2_gene
|
gptkbp:OMIM |
170390
|
gptkbp:symptom |
muscle weakness
clinodactyly hypertelorism low-set ears prolonged QT interval ventricular arrhythmias |
gptkbp:treatment |
gptkb:implantable_cardioverter-defibrillator
beta-blockers antiarrhythmic drugs |
gptkbp:bfsParent |
gptkb:HGNC:6407
|
gptkbp:bfsLayer |
6
|