Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

Brugada syndrome 1
Synonyms

Cardiac conduction defect, nonspecific

right bundle branch block, St segment elevation, and sudden death syndrome

sudden unexplained nocturnal death syndrome

Brugada syndrome 1

Brugada syndrome type 1

SCN5A Brugada syndrome

Brugada syndrome caused by mutation in SCN5A

BRGDA1

Definitions

Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.

ID

http://purl.obolibrary.org/obo/MONDO_0011001

curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0011001

database_cross_reference

UMLS:C4551804

OMIM:601144

MEDGEN:1646402

DOID:0110218

definition

Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C4551804

http://purl.obolibrary.org/obo/DOID_0110218

http://identifiers.org/medgen/1646402

https://omim.org/entry/601144

has_exact_synonym

Brugada syndrome 1

Brugada syndrome type 1

SCN5A Brugada syndrome

Brugada syndrome caused by mutation in SCN5A

BRGDA1

has_related_synonym

Cardiac conduction defect, nonspecific

right bundle branch block, St segment elevation, and sudden death syndrome

sudden unexplained nocturnal death syndrome

id

MONDO:0011001

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#gard_rare

label

Brugada syndrome 1

notation

MONDO:0011001

preferred label

Brugada syndrome 1

prefLabel

Brugada syndrome 1

subClassOf

http://purl.obolibrary.org/obo/MONDO_0015263

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