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loading...| Preferred Name |
Long QT Syndrome 5 |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C172094 |
| code |
C172094 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| DEFINITION |
An autosomal dominant condition caused by mutation(s) in the KCNE1 gene, encoding potassium voltage-gated channel subfamily E member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. |
| FULL_SYN |
LQT5 Long QT Syndrome 5 |
| label |
Long QT Syndrome 5 |
| Preferred_Name |
Long QT Syndrome 5 |
| prefixIRI |
Thesaurus:C172094 |
| prefLabel |
Long QT Syndrome 5 |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C1867904 |
| subClassOf |
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