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loading...| Preferred Name |
Jervell and Lange Nielsen Syndrome |
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| Synonyms |
Jervell and Lange Nielsen Syndrome JLNS1 |
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| 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. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84793 |
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| code |
C84793 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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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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| FULL_SYN |
Jervell and Lange Nielsen Syndrome JLNS1 |
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| label |
Jervell and Lange Nielsen Syndrome |
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| Preferred_Name |
Jervell and Lange Nielsen Syndrome |
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| prefixIRI |
Thesaurus:C84793 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0022387 |
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| subClassOf |
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