sinoatrial node dysfunction and deafness
Go to external page http://purl.obolibrary.org/obo/MONDO_0013960
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. [ Orphanet:324321 ]
Synonyms: sinoatrial node dysfunction and deafness
Term information
- UMLS:C3554018 (MONDO:equivalentTo)
- GARD:17484 (MONDO:GARD)
- MEDGEN:766932 (MONDO:equivalentTo)
- OMIM:614896 (Orphanet:324321/e)
- Orphanet:324321 (OMIM:614896)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen
http://linkedlifedata.com/resource/umls/id/C3554018
http://www.orpha.net/ORDO/Orphanet_324321
http://identifiers.org/medgen/766932
https://omim.org/entry/614896