Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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

C2748542

C1142166

Gene Locus

3p21

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/MTHU042485

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

tui

T047

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http://purl.bioontology.org/ontology/ICD10CM/I49.8 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C567557 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0110218 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D053840 Medical Subject Headings CUI