Hearing Impairment Ontology

Last uploaded: October 31, 2019
Preferred Name

Jervell and Lange-Nielsen Syndrome 1
Synonyms
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/HIO_0000356

description

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

created_by

Jade Hotchkiss

creation_date

2019-08-12T14:08:21.148855Z

database cross reference

MONDO:0024540

definition source

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

existence in other ontologies

Sufficient

gene carrying contributing genetic variation

http://purl.obolibrary.org/obo/HIO_0000231

hasExactSynonym

Prolonged QT Interval in EKG and Sudden Death

Jervell and Lange-Nielsen Syndrome Caused by Mutation in KCNQ1

KCNQ1 Jervell and Lange-Nielsen Syndrome

Surdo-Cardiac Syndrome

Deafness, Congenital, and Functional Heart Disease

JLNS1

label

Jervell and Lange-Nielsen Syndrome 1

prefixIRI

HIO:0000356

prefLabel

Jervell and Lange-Nielsen Syndrome 1

subClassOf

http://purl.obolibrary.org/obo/HIO_0000020

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