| Metadata | |
|---|---|
| ID | DOID:0110649 |
| Name | long QT syndrome 8 |
| Definition | A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. https://www.omim.org/MIM:618447, https://pubmed.ncbi.nlm.nih.gov/37132248/, https://pubmed.ncbi.nlm.nih.gov/34079780 |
| Xrefs | |
| SKOS |
exactMatch MIM:618447 |
| Synonyms |
LQT8 [EXACT] |
| Parent Relationships |
is_a long QT syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |