Preferred Name

Jervell and Lange-Nielsen syndrome 1

Synonyms

Jervell and Lange-Nielsen syndrome 1

KCNQ1 Jervell and Lange-Nielsen syndrome

Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1

Jervell and Lange-Nielsen syndrome

Cardioauditory syndrome of Jervell and Lange-Nielsen

prolonged QT interval in Ekg and sudden death

deafness, congenital, and functional heart disease

JLNS1

Surdo-Cardiac syndrome

Definitions

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0024540

has_broad_synonym

Jervell and Lange-Nielsen syndrome

has_exact_synonym

Jervell and Lange-Nielsen syndrome 1

KCNQ1 Jervell and Lange-Nielsen syndrome

Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1

has_related_synonym

Cardioauditory syndrome of Jervell and Lange-Nielsen

prolonged QT interval in Ekg and sudden death

deafness, congenital, and functional heart disease

JLNS1

Surdo-Cardiac syndrome

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

label

Jervell and Lange-Nielsen syndrome 1

prefixIRI

MONDO:0024540

prefLabel

Jervell and Lange-Nielsen syndrome 1

textual definition

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0002441

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