JSON

familial long QT syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0019171

A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. [ Orphanet:768 ]

Synonyms: familial long QT syndrome Romano-Ward long QT syndrome Ward-Romano syndrome congenital long QT syndrome Romano-Ward syndrome hereditary long QT syndrome Long QT Syndrome LQTS

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:16547 (MONDO:GARD)
  • OMIMPS:192500 (https://orcid.org/0000-0002-6601-2165)
  • UMLS:C1141890 (MONDO:equivalentTo)
  • NORD:1675 (MONDO:NORD)
  • MEDGEN:685787 (MONDO:equivalentTo)
  • MedDRA:10057926 (Orphanet:768/e)
  • SCTID:442917000 (MONDO:equivalentTo)
  • Orphanet:768 (MONDO:equivalentTo)
  • icd11.foundation:1208831985 (https://orcid.org/0000-0002-3458-4839)
  • Orphanet:101016 (OMIM:192500)
  • NANDO:2200228 (https://orcid.org/0000-0003-0011-764X)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen, ordo_group_of_disorders

ClinGen label
familial long QT syndrome

abbreviation
LQTS [ Orphanet:768 ]

closeMatch

http://identifiers.org/meddra/10057926

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml

exactMatch

http://www.orpha.net/ORDO/Orphanet_101016

https://omim.org/phenotypicSeries/PS192500

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

http://www.orpha.net/ORDO/Orphanet_768

http://identifiers.org/medgen/685787

http://identifiers.org/snomedct/442917000

id

MONDO:0019171

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

Term relations