loading...| Preferred Name |
Jervell-Lange Nielsen Syndrome [Disease/Finding] |
|
| Synonyms |
Cardioauditory Syndrome of Jervell and Lange-Nielsen |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000011078 |
|
| altLabel |
Cardioauditory Syndrome of Jervell and Lange-Nielsen Prolonged QT Interval in EKG and Sudden Death Cardio-Auditory-Syncope Syndrome Jervell and Lange-Nielsen Syndrome Surdo-Cardiac Syndrome Jervell And Lange-Nielsen Syndrome 1 Deafness, Congenital, and Functional Heart Disease Jervell-Lange Nielsen Syndrome |
|
| cui |
C0022387 |
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| MESH 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). |
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| MESH DUI |
D029593 |
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| MeSH name |
Jervell-Lange Nielsen Syndrome |
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| MESH UI |
M0012683 |
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| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000011078 |
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| NUI |
N0000011078 |
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| prefLabel |
Jervell-Lange Nielsen Syndrome [Disease/Finding] |
|
| SNOMED CID |
373905003 |
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| tui |
T047 |
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| subClassOf |