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Jervell and Lange-Nielsen syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0002441

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. [ NCIT:P378 ]

Synonyms: long QT interval-deafness syndrome Jervell Lange-Nielsen syndrome Jervell and Lange-Nielson syndrome Jervell-Lange Nielsen syndrome Jervell and Lange-Nielsen syndrome Jervell and Lange Nielsen syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10057936 (Orphanet:90647/e)
  • Orphanet:90647 (OMIM:220400)
  • NCIT:C84793 (MONDO:equivalentTo)
  • UMLS:C0022387 (Orphanet:90647/e)
  • GARD:3048 (Orphanet:90647)
  • MESH:D029593 (MONDO:equivalentTo)
  • DOID:2842 (MONDO:equivalentTo)
  • SCTID:373905003 (MONDO:equivalentTo)
  • NORD:1310 (MONDO:NORD)
  • OMIMPS:220400 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, rare, prototype_pattern, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10057936

exactMatch

http://purl.obolibrary.org/obo/DOID_2842

https://omim.org/phenotypicSeries/PS220400

http://identifiers.org/snomedct/373905003

http://www.orpha.net/ORDO/Orphanet_90647

http://purl.obolibrary.org/obo/NCIT_C84793

http://identifiers.org/mesh/D029593

http://linkedlifedata.com/resource/umls/id/C0022387

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019171

has related synonym

Jervell and Lange-Nielsen syndrome type 1

prolonged QT interval in EKG and sudden death

Jervell and Lange-Nielsen syndrome 1

Cardioauditory syndrome of Jervell and Lange-Nielsen

Surdo-cardiac syndrome

deafness, congenital, and functional heart disease

JLNS1

id

MONDO:0002441

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0002441

https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome

Term relations