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dilated cardiomyopathy 2B

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 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 GATAD1 gene on chromosome 7q21.
Mondo Term and Equivalent IDs
MONDO:0013848:  dilated cardiomyopathy 2B
UMLS:C3553409: