Preferred Name | Long Qt Syndrome 2 | |
Synonyms |
|
|
ID |
http://purl.bioontology.org/ontology/MESH/C563614 |
|
cui |
C3150943 |
|
HM |
D008133 |
|
Inverse of RB |
0 |
|
Mapped to | ||
MDA |
20121105 |
|
MeSH Frequency |
100 |
|
MMR |
20150818 |
|
notation |
C563614 |
|
prefLabel |
Long Qt Syndrome 2 |
|
SC |
3 |
|
Scope Statement |
A congenital disorder characterized by a prolonged QT interval and TORSADE DE POINTES. These cardiac arrhythmias may result in recurrent SYNCOPE, seizure, or sudden death. Mutations in the KCNH2 gene have been identified. OMIM: 613688 |
|
TERMUI |
T803236 |
|
TH |
OMIM (2013) |
|
tui |
T047 |
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