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loading...| Preferred Name | BRUGADA SYNDROME 1 | |
| Synonyms |
CARDIAC CONDUCTION DEFECT, NONSPECIFIC SUNDS SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME BRGDA1 RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/601144 |
|
| altLabel |
CARDIAC CONDUCTION DEFECT, NONSPECIFIC SUNDS SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME BRGDA1 RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME |
|
| cui |
C1142166 C2748542 C4551804 |
|
| Gene Locus |
3p22.2 |
|
| Gene Symbol |
SCN5A CDCD2 VF1 CMD1E LQT3 SSS1 HB1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006118 http://purl.bioontology.org/ontology/OMIM/MTHU037226 |
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| 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 |
Create mapping