Jervell and Lange-Nielsen syndrome 2

Jervell and Lange-Nielsen syndrome 2

http://purl.obolibrary.org/obo/MONDO_0012871

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: Jervell and Lange-Nielsen syndrome 2 KCNE1 Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1 Jervell and Lange-Nielsen syndrome type 2

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This is just here as a test because I lose it

Term information

database cross reference

MESH:C567343 (MONDO:equivalentTo)
OMIM:612347 (MONDO:equivalentTo)
GARD:10364 (OMIM:612347)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://identifiers.org/mesh/C567343

https://omim.org/entry/612347

has related synonym

JLNS2

MONDO:0012871

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0012871

https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2

Term relations

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