Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

familial long QT syndrome
Synonyms

Long QT Syndrome

familial long QT syndrome

Ward-Romano syndrome

congenital long QT syndrome

hereditary long QT syndrome

Romano-Ward syndrome

Romano-Ward long QT syndrome

LQTS

Definitions

A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.

ID

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

closeMatch

http://identifiers.org/meddra/10057926

curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0019171

database_cross_reference

SCTID:442917000

MedDRA:10057926

icd11.foundation:1208831985

NANDO:2200228

Orphanet:768

OMIMPS:192500

MEDGEN:685787

UMLS:C1141890

Orphanet:101016

GARD:16547

NORD:1675

definition

A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_101016

http://identifiers.org/snomedct/442917000

https://omim.org/phenotypicSeries/PS192500

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1208831985

http://purl.obolibrary.org/obo/Orphanet_768

http://linkedlifedata.com/resource/umls/id/C1141890

http://identifiers.org/medgen/685787

has_exact_synonym

Long QT Syndrome

familial long QT syndrome

Ward-Romano syndrome

congenital long QT syndrome

hereditary long QT syndrome

Romano-Ward syndrome

Romano-Ward long QT syndrome

LQTS

id

MONDO:0019171

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#clingen

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

familial long QT syndrome

notation

MONDO:0019171

preferred label

familial long QT syndrome

prefLabel

familial long QT syndrome

subClassOf

http://purl.obolibrary.org/obo/MONDO_0100547

http://purl.obolibrary.org/obo/MONDO_0002254

http://www.ebi.ac.uk/efo/EFO_0005207

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