loading...| Preferred Name | Jervell and Lange-Nielsen syndrome 1 | |
| Synonyms |
deafness, congenital, and functional heart disease Cardioauditory syndrome of Jervell and Lange-Nielsen Surdo-Cardiac syndrome prolonged QT interval in Ekg and sudden death JLNS1 Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1 Jervell and Lange-Nielsen syndrome 1 KCNQ1 Jervell and Lange-Nielsen syndrome |
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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/MONDO_0024540 |
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| database_cross_reference |
OMIM:220400 UMLS:C4551509 MEDGEN:1646925 |
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| definition |
Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. |
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| exactMatch | ||
| has_broad_synonym |
Jervell and Lange-Nielsen syndrome |
|
| has_exact_synonym |
Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1 Jervell and Lange-Nielsen syndrome 1 KCNQ1 Jervell and Lange-Nielsen syndrome |
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| has_related_synonym |
deafness, congenital, and functional heart disease Cardioauditory syndrome of Jervell and Lange-Nielsen Surdo-Cardiac syndrome prolonged QT interval in Ekg and sudden death JLNS1 |
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| IAO_0000233 | ||
| id |
MONDO:0024540 |
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| in_subset | ||
| label |
Jervell and Lange-Nielsen syndrome 1 |
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| notation |
MONDO:0024540 |
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| preferred label |
Jervell and Lange-Nielsen syndrome 1 |
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| prefLabel |
Jervell and Lange-Nielsen syndrome 1 |
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| subClassOf |