Metadata | |
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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://pubmed.ncbi.nlm.nih.gov/34079780, https://pubmed.ncbi.nlm.nih.gov/37132248/, https://www.omim.org/MIM:618447 |
Xrefs | |
Synonyms |
LQT8 [EXACT] |
Parent Relationships |
is_a long QT syndrome |