loading...| Preferred Name |
Long QT Syndrome 1 |
|
| Synonyms |
Romano-Ward Syndrome Long QT Syndrome 1 LQT1 |
|
| Definitions |
An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85049 |
|
| code |
C85049 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| DEFINITION |
An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT 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 |
Romano-Ward Syndrome Long QT Syndrome 1 LQT1 |
|
| label |
Long QT Syndrome 1 |
|
| Preferred_Name |
Long QT Syndrome 1 |
|
| prefixIRI |
Thesaurus:C85049 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0035828 |
|
| subClassOf |