loading...| Preferred Name |
Jervell and Lange-Nielsen syndrome |
|
| Synonyms |
Jervell and Lange-Nielson syndrome Jervell-Lange Nielsen syndrome Jervell Lange-Nielsen syndrome long QT interval-deafness syndrome Jervell and Lange Nielsen syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome type 1 deafness, congenital, and functional heart disease prolonged QT interval in EKG and sudden death JLNS1 Surdo-cardiac syndrome |
|
| Definitions |
An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0002441 |
|
| has_exact_synonym |
Jervell and Lange-Nielson syndrome Jervell-Lange Nielsen syndrome Jervell Lange-Nielsen syndrome long QT interval-deafness syndrome Jervell and Lange Nielsen syndrome |
|
| has_related_synonym |
Cardioauditory syndrome of Jervell and Lange-Nielsen Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome type 1 deafness, congenital, and functional heart disease prolonged QT interval in EKG and sudden death JLNS1 Surdo-cardiac syndrome |
|
| label |
Jervell and Lange-Nielsen syndrome |
|
| prefixIRI |
MONDO:0002441 |
|
| prefLabel |
Jervell and Lange-Nielsen syndrome |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome |
|
| textual definition |
An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. |
|
| subClassOf |