loading...| Preferred Name | long QT syndrome 2 | |
| Synonyms |
long QT syndrome 2, acquired, susceptibility to long QT syndrome 2/3, digenic long QT syndrome 2/9, digenic long QT syndrome 1/2, digenic long QT syndrome 2/5, digenic Long QT syndrome, acquired, reduced susceptibility to long QT syndrome 2 long QT syndrome type 2 LQT2 |
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| Definitions |
An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0013367 |
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| altLabel |
long QT syndrome 2, acquired, susceptibility to long QT syndrome 2/3, digenic long QT syndrome 2/9, digenic long QT syndrome 1/2, digenic long QT syndrome 2/5, digenic Long QT syndrome, acquired, reduced susceptibility to long QT syndrome 2 long QT syndrome type 2 LQT2 |
|
| definition |
An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. |
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| has_exact_synonym |
Long QT syndrome, acquired, reduced susceptibility to long QT syndrome 2 long QT syndrome type 2 LQT2 |
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| has_related_synonym |
long QT syndrome 2, acquired, susceptibility to long QT syndrome 2/3, digenic long QT syndrome 2/9, digenic long QT syndrome 1/2, digenic long QT syndrome 2/5, digenic |
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| IAO_0000233 | ||
| label |
long QT syndrome 2 |
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| prefixIRI |
MONDO:0013367 |
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| prefLabel |
long QT syndrome 2 |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2 |
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| textual definition |
An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. |
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| subClassOf |