Medical Subject Headings

Last uploaded: August 28, 2024
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

http://purl.bioontology.org/ontology/MESH/D008133

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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