loading...| Preferred Name |
Kearns-Sayre syndrome |
|
| Synonyms |
Kearns-Sayre syndrome ophthalmoplegia-plus syndrome mitochondrial Cytopathy ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy oculocraniosomatic syndrome chronic progressive external ophthalmoplegia with myopathy CPEO with myopathy KSS ophthalmoplegia, progressive external, with ragged-Red fibers CPEO with ragged red fibers ophthalmoplegia plus syndrome CPEO with ragged-Red fibers ophthalmoplegia, progressive external, with ragged red fibers |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0010787 |
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| has_exact_synonym |
Kearns-Sayre syndrome |
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| has_related_synonym |
ophthalmoplegia-plus syndrome mitochondrial Cytopathy ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy oculocraniosomatic syndrome chronic progressive external ophthalmoplegia with myopathy CPEO with myopathy KSS ophthalmoplegia, progressive external, with ragged-Red fibers CPEO with ragged red fibers ophthalmoplegia plus syndrome CPEO with ragged-Red fibers ophthalmoplegia, progressive external, with ragged red fibers |
|
| label |
Kearns-Sayre syndrome |
|
| prefixIRI |
MONDO:0010787 |
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| prefLabel |
Kearns-Sayre syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome |
|
| textual definition |
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. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016387 http://purl.obolibrary.org/obo/MONDO_0020240 http://purl.obolibrary.org/obo/MONDO_0015368 http://purl.obolibrary.org/obo/MONDO_0005181 http://purl.obolibrary.org/obo/MONDO_0016333 |