Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Brugada syndrome
Synonyms

Idiopathic ventricular fibrillation, Brugada type

Definitions

A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.

ID

http://www.orpha.net/ORDO/Orphanet_130

alternative_term

Idiopathic ventricular fibrillation, Brugada type

definition

A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=130

has_age_of_onset

Adult

Childhood

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

MedDRA:10059027

OMIM:616399

OMIM:611876

OMIM:611875

UMLS:C1142166

MeSH:D053840

ICD-11:BC65.1

OMIM:612838

ICD-10:I49.8

OMIM:601144

OMIM:613120

OMIM:613123

OMIM:611777

OMIM:613119

label

Brugada syndrome

notation

ORPHA:130

part_of

http://www.orpha.net/ORDO/Orphanet_101934

prefixIRI

ORDO:Orphanet_130

prefLabel

Brugada syndrome

present_in

Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000

South East Asia AND has_point_prevalence_average_value : 75.0 AND has_point_prevalence_range : 6-9 / 10 000

treeView

http://www.orpha.net/ORDO/Orphanet_101934

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_130 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_130 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050451 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0015263 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050451 CVDO LOOM
http://purl.obolibrary.org/obo/DOID_0050451 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050451 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050451 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050451 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0050451 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050451 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050451 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050451 FNS-H LOOM
http://purl.bioontology.org/ontology/RCTV2/G57y200 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10059027 MEDDRA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036196 PMAPP-PMO LOOM
rgo:28912 GAMUTS LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050451 NATPRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142891 NCIT LOOM
http://bmi.utah.edu/ontologies/hfontology/C1142166 HFO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_8022 HRDO LOOM
http://purl.jp/bio/4/id/200906010431000778 IOBC LOOM
http://purl.obolibrary.org/obo/NCIT_C142891 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D053840 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.067.322 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C1142166 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0015263 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015263 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015263 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Brugada_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/418818005 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D053840 MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#55135 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0025618 OMIT LOOM
http://www.gamuts.net/entity#Brugada_syndrome GAMUTS REST