Preferred Name | Long QT Syndrome 2 | |
Synonyms |
Long QT Syndrome 2 LQT2 |
|
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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C137957 |
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code |
C137957 |
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Concept_In_Subset | ||
Contributing_Source |
Cellosaurus |
|
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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FULL_SYN |
Long QT Syndrome 2 LQT2 |
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label |
Long QT Syndrome 2 |
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Preferred_Name |
Long QT Syndrome 2 |
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prefixIRI |
Thesaurus:C137957 |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C3150943 |
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subClassOf |