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sinoatrial node dysfunction and deafness

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.
Uniprot Description A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia.
Mondo Term and Equivalent IDs
MONDO:0013960:  sinoatrial node dysfunction and deafness
Orphanet:324321: 
UMLS:C3554018: