Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alternativeName |
gptkb:LQT1
|
| gptkbp:associatedWith |
gptkb:torsades_de_pointes
|
| gptkbp:diagnosedBy |
ECG
|
| gptkbp:firstDescribed |
1995
|
| https://www.w3.org/2000/01/rdf-schema#label |
Long QT syndrome type 1
|
| gptkbp:ICD-10_code |
I45.81
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_11p15.5
|
| gptkbp:mutationAssociatedWith |
gptkb:KCNQ1_gene
|
| gptkbp:OMIM |
192500
|
| gptkbp:prevalence |
1 in 5,000
|
| gptkbp:riskFactor |
exercise
emotional stress |
| gptkbp:subspecies |
gptkb:Long_QT_syndrome
|
| gptkbp:symptom |
sudden cardiac death
syncope prolonged QT interval |
| gptkbp:treatment |
gptkb:implantable_cardioverter-defibrillator
beta blockers |
| gptkbp:UMLS_CUI |
C0344315
|
| gptkbp:bfsParent |
gptkb:LQT1
|
| gptkbp:bfsLayer |
7
|