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Kearns-Sayre syndrome

Disease Summary
Associated Targets (4)
Tclin

1

Tchem

1

Tbio

1

Tdark

1


GARD Rare
Mondo Description Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.
Mondo Term and Equivalent IDs
MONDO:0010787:  Kearns-Sayre syndrome
COHD:81539: 
GARD:0006817: 
MESH:D007625: 
NCIT:C84798: 
Orphanet:480: 
SCTID:25792000: 
UMLS:C0022541: