Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/604772 http://purl.bioontology.org/ontology/OMIM/604772
Preferred Name	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
Synonyms	VTSIP CPVT1 VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 VTSIP1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	VTSIP CPVT1 VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 VTSIP1
prefLabel	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
Gene Symbol	ARVC2 VTSIP VACRDS RYR2
Scope Statement	Caused by mutation in the ryanodine receptor-2 gene (RYR2, 180902.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU029184 http://purl.bioontology.org/ontology/OMIM/MTHU006249 http://purl.bioontology.org/ontology/OMIM/MTHU038505 http://purl.bioontology.org/ontology/OMIM/MTHU044064 http://purl.bioontology.org/ontology/OMIM/MTHU073634 http://purl.bioontology.org/ontology/OMIM/MTHU006088 http://purl.bioontology.org/ontology/OMIM/MTHU068446 http://purl.bioontology.org/ontology/OMIM/MTHU033440 http://purl.bioontology.org/ontology/OMIM/MTHU073635 http://purl.bioontology.org/ontology/OMIM/MTHU005009 http://purl.bioontology.org/ontology/OMIM/MTHU073631 http://purl.bioontology.org/ontology/OMIM/MTHU040565 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	1q42.1-q43
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	604772
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1631597
Moved from	600996
OMIM Entry Type	3
OMIM MimType Value	pound

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