Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/611938
http://purl.bioontology.org/ontology/OMIM/611938
|
|---|---|
| Preferred Name | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 |
| Synonyms |
CPVT2
VTSIP2
VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CPVT2
VTSIP2
VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 2
|
|---|---|
| prefLabel | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2
|
| Gene Symbol | CASQ2
|
| notation | 611938
|
| Scope Statement | Caused by mutation in the calsequestrin-2 gene (CASQ2, 114251.0002) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation | |
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 1p13.3-p11
|
| tui | T047
|
| cui | C2677794
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Notes
Filter:
