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loading...| Preferred Name | Long QT Syndrome 2 | |
| Synonyms |
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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/NCIT_C137957 |
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| code |
C137957 |
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| Contributing_Source |
Cellosaurus |
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| 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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| in_subset | ||
| label |
Long QT Syndrome 2 |
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| Preferred_Name |
Long QT Syndrome 2 |
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| prefixIRI |
NCIT:C137957 |
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| prefLabel |
Long QT Syndrome 2 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C3150943 |
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| subClassOf |
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