Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Brugada syndrome 1
Synonyms	BRGDA1
Definitions	A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.
ID	http://purl.obolibrary.org/obo/DOID_0110218
database_cross_reference	ICD10CM:I49.8 OMIM:601144
definition	A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.
has exact synonym	BRGDA1
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0110218
label	Brugada syndrome 1
notation	DOID:0110218
prefLabel	Brugada syndrome 1
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0050451

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/601144	Online Mendelian Inheritance in Man	LOOM