loading...| Preferred Name |
VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME |
|
| Synonyms |
VACRDS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/115000 |
|
| altLabel |
VACRDS RYR2 CALCIUM RELEASE DEFICIENCY SYNDROME |
|
| cui |
C5542154 |
|
| Gene Locus |
1q42.1-q43 |
|
| Gene Symbol |
ARVC2 VTSIP VACRDS RYR2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU037226 http://purl.bioontology.org/ontology/OMIM/MTHU044277 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
115000 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME |
|
| Scope Statement |
Onset of symptoms in 2nd to 9th decades of life [MISCELLANEOUS] Sudden unexpected death (in some patients) [MISCELLANEOUS] Caused by mutation in the ryanodine receptor-2 gene (RYR2, 180902.0010) [MOLECULAR BASIS] Exercise stress test is negative (in some patients) [MISCELLANEOUS] Symptoms often associated with physical exertion or acute emotional stress [MISCELLANEOUS] |
|
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0020745 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0020745 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0020745 | DOVES | LOOM |