Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 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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http://purl.bioontology.org/ontology/OMIM/601144 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0011001 Mondo Disease Ontology / Mondo疾病本体 LOOM