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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614896
Orphanet:324321
UMLS:C3554018
MONDO:0013960
High level summary of knowledge for a disease, including descriptions and datasource references.