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 |
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 |