loading...| Preferred Name |
Kearns-Sayre syndrome |
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| Synonyms |
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| Definitions |
A rare inborn error of metabolism that is 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://www.orpha.net/ORDO/Orphanet_480 |
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| definition |
A rare inborn error of metabolism that is 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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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 |
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| has_age_of_onset |
Adolescent Adult Childhood Infancy |
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| has_inheritance |
Not applicable Autosomal recessive Mitochondrial inheritance |
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| hasDbXref |
ICD-10:H49.8 OMIM:530000 ICD-11:9C82.0 MedDRA:10048804 MeSH:D007625 UMLS:C0022541 |
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| label |
Kearns-Sayre syndrome |
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| notation |
ORPHA:480 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_254767 http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_206966 http://www.orpha.net/ORDO/Orphanet_522522 http://www.orpha.net/ORDO/Orphanet_217613 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_225700 http://www.orpha.net/ORDO/Orphanet_225703 http://www.orpha.net/ORDO/Orphanet_181402 |
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| prefixIRI |
ORDO:Orphanet_480 |
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| prefLabel |
Kearns-Sayre syndrome |
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| present_in |
Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_254767 http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_206966 http://www.orpha.net/ORDO/Orphanet_522522 http://www.orpha.net/ORDO/Orphanet_217613 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_225700 http://www.orpha.net/ORDO/Orphanet_225703 http://www.orpha.net/ORDO/Orphanet_181402 |
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| subClassOf |