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GENE - TERM ANNOTATION REPORT

CRRD ID: 1305794
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Dsp
Name: desmoplakin
Acc ID: DOID:11984
Term: hypertrophic cardiomyopathy
Definition: A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).
Definition Source(s): MESH:D002312, http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy, http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747, http://www.nhlbi.nih.gov/health/health-topics/topics/cm/
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISOCRRD:13140431580892CRRD  
 ISOCRRD:13140438554872ClinVarClinVar Annotator: match by term: Cardiomyopathy, hypertrophic

 
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