Preferred Name | Jervell and Lange-Nielsen Syndrome 1 | |
Synonyms |
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Definitions |
Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. |
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ID |
http://purl.obolibrary.org/obo/HIO_0000356 |
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description |
Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. |
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created_by |
Jade Hotchkiss |
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creation_date |
2019-08-12T14:08:21.148855Z |
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database cross reference |
MONDO:0024540 |
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definition source | ||
existence in other ontologies |
Sufficient |
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gene carrying contributing genetic variation | ||
hasExactSynonym |
Prolonged QT Interval in EKG and Sudden Death Jervell and Lange-Nielsen Syndrome Caused by Mutation in KCNQ1 KCNQ1 Jervell and Lange-Nielsen Syndrome Surdo-Cardiac Syndrome Deafness, Congenital, and Functional Heart Disease JLNS1 |
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label |
Jervell and Lange-Nielsen Syndrome 1 |
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prefixIRI |
HIO:0000356 |
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prefLabel |
Jervell and Lange-Nielsen Syndrome 1 |
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subClassOf |
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