loading...| Preferred Name |
Jervell and Lange Nielsen Syndrome |
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| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Jervell_and_Lange_Nielsen_Syndrome |
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| 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. |
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| isDefinedBy |
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. |
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| label |
Jervell and Lange Nielsen Syndrome |
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| prefixIRI |
Thesaurus:Jervell_and_Lange_Nielsen_Syndrome |
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| prefLabel |
Jervell and Lange Nielsen Syndrome |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Long_QT_Syndrome |