loading...| Preferred Name |
Jervell and Lange-Nielsen Syndrome |
|
| Synonyms |
|
|
| Definitions |
An autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). |
|
| ID |
http://purl.obolibrary.org/obo/HIO_0000020 |
|
| comment |
It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). |
|
| description |
An autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias. |
|
| created_by |
Jade Hotchkiss |
|
| creation_date |
2019-05-24T10:04:49.779529Z |
|
| database cross reference |
ORPHA:90647 |
|
| definition source | ||
| existence in other ontologies |
Sufficient |
|
| has mode of inheritance | ||
| hasExactSynonym |
Cardioauditory Syndrome of Jervell and Lange Nielsen Jervell Lange Nielsen Syndrome Cardioauditory Syndrome of Jervell and Lange-Nielsen Long QT Interval-Deafness Syndrome Jervell-Lange Nielsen Syndrome; Cardio-Auditory Syndrome JLNS |
|
| label |
Jervell and Lange-Nielsen Syndrome |
|
| prefixIRI |
HIO:0000020 |
|
| prefLabel |
Jervell and Lange-Nielsen Syndrome |
|
| source | ||
| subClassOf |