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dilated cardiomyopathy 1II

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.
Uniprot Description A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Disease Ontology Description A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23.
Mondo Term and Equivalent IDs
MONDO:0014073:  dilated cardiomyopathy 1II
UMLS:C3554649: