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Summary Literature (0)
DOID:0060675 - catecholaminergic polymorphic ventricular tachycardia 1

Disease Ontology Definition:A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.

Synonyms: CVPT1, arrhythmogenic right ventricular dysplasia 2

Xenbase Genes : casq2, trdn

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011484 - catecholaminergic polymorphic ventricular tachycardia 1

MIM:
MIM:604772 - VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): catecholaminergic polymorphic ventricular tachycardia (is_a)