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

This is just here as a test because I lose it

Term information

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

gard_rare, ordo_disorder, matrix_llm__is_cancer_other, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, matrix_included, clingen, matrix_txgnn_grouping_member, rare, mondo_top_grouping_cardiovascular_disorder, orphanet_rare, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_cardiovascular_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cardiovascular_disorder, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, ordo_group_of_disorders

abbreviation
LQTS [ Orphanet:768 ]

ClinGen label
familial long QT syndrome [ icd11.foundation:1208831985 Orphanet:768 ]

closeMatch

http://identifiers.org/meddra/10057926

conformsTo

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

contributor

https://orcid.org/0000-0002-4142-7153

https://orcid.org/0000-0003-2955-4640

curated content resource

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

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

http://identifiers.org/snomedct/442917000

id

MONDO:0019171

should conform to

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

Term relations