short QT syndrome
Information
- Disease name
- short QT syndrome
- Disease ID
- DOID:0050793
- Description
- "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart." [url:http\://en.wikipedia.org/wiki/Short_QT_syndrome, url:http\://ghr.nlm.nih.gov/condition/short-qt-syndrome, url:http\://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| KCNH2 | 7 | 150,944,961 | 150,978,321 | 8 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:10273
- Cross Reference ID (Disease Ontology)
- MIM:609620
- Cross Reference ID (Disease Ontology)
- MIM:609621
- Cross Reference ID (Disease Ontology)
- MIM:609622
- OMIM Phenotype Series Number (OMIM)
- PS609620