Preferred Name

BRUGADA SYNDROME 1

Synonyms

BRGDA1

ID

http://purl.bioontology.org/ontology/OMIM/601144

altLabel

BRGDA1

SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME

SUNDS

RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME

CARDIAC CONDUCTION DEFECT, NONSPECIFIC

cui

C4551804

C2748542

C1142166

Gene Locus

3p22.2

Gene Symbol

CDCD2

CMD1E

SCN5A

HB1

SSS1

LQT3

VF1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006088

http://purl.bioontology.org/ontology/OMIM/MTHU006117

http://purl.bioontology.org/ontology/OMIM/MTHU037226

http://purl.bioontology.org/ontology/OMIM/MTHU006118

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

601144

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

BRUGADA SYNDROME 1

Scope Statement

Caused by mutation in the sodium channel, voltage-gated, type V, alpha subunit gene (SCN5A, 600163.0004) [MOLECULAR BASIS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/I49.8 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/C567557 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/MONDO_0011001 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0110218 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D053840 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D053840 Medical Subject Headings / 医学主题词表 CUI