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MIRAGE
long QT syndrome 2
Summary
- Synonym
-
- LQT2
- Definition
- A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.
- Super Class
- autosomal dominant disease digenic disease long QT syndrome
External Links
- Disease Ontology
- DOID:0110645
- Mondo Disease Ontology
- MeSH
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12809 | Voltage-gated inwardly rectifying potassium channel KCNH2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001657 | Prolonged QT interval |
| HP:0003581 | Adult onset |
| HP:0001279 | Syncope |
| HP:0011463 | Childhood onset |
| HP:0001664 | Torsade de pointes |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001695 | Cardiac arrest |
| HP:0001645 | Sudden cardiac death |
| HP:0005184 | Prolonged QTc interval |
| HP:0001663 | Ventricular fibrillation |
