loading...| Preferred Name |
obsolete_Jervell and Lange-Nielsen syndrome |
|
| Synonyms |
JLNS Deafness, Congenital, and Functional Heart Disease Syndrome, Jervell-Lange Nielsen Jervell and Lange Nielsen Syndrome Cardioauditory Syndrome of Jervell and Lange-Nielsen Surdo-Cardiac Syndromes Surdo-Cardiac Syndrome Jervell and Lange-Nielsen Syndrome Surdo Cardiac Syndrome Jervell Lange Nielsen Syndrome Cardioauditory Syndrome of Jervell and Lange Nielsen Syndrome, Surdo-Cardiac Prolonged QT Interval in EKG and Sudden Death |
|
| Definitions |
A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0004689 |
|
| Obsolete |
true |
|
| definition |
A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). |
|
| definition_citation | ||
| deprecated |
true |
|
| has_exact_synonym |
Prolonged QT Interval in EKG and Sudden Death Syndrome, Surdo-Cardiac Cardioauditory Syndrome of Jervell and Lange Nielsen Jervell Lange Nielsen Syndrome Surdo Cardiac Syndrome Jervell and Lange-Nielsen Syndrome Surdo-Cardiac Syndrome Surdo-Cardiac Syndromes Cardioauditory Syndrome of Jervell and Lange-Nielsen Jervell and Lange Nielsen Syndrome Syndrome, Jervell-Lange Nielsen Deafness, Congenital, and Functional Heart Disease JLNS |
|
| label |
obsolete_Jervell and Lange-Nielsen syndrome |
|
| obsoleted_in_version |
2.32 |
|
| organizational_class |
true |
|
| prefixIRI |
efo1:EFO_0004689 |
|
| prefLabel |
obsolete_Jervell and Lange-Nielsen syndrome |
|
| reason_for_obsolescence |
use 'http://www.orpha.net/ORDO/Orphanet_90647' instead. New Label : Jervell and Lange-Nielsen syndrome |
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| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0009078 | MONDO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_90647 | HSPO | LOOM |