loading...| Preferred Name |
Cockayne syndrome |
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| Synonyms |
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| Definitions |
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_191 |
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| definition |
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. |
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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=191 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-10:Q87.1 OMIM:216411 MeSH:D003057 OMIM:610758 OMIM:610756 OMIM:216400 OMIM:214150 MedDRA:10009835 OMIM:616570 OMIM:278780 ICD-11:LD2B OMIM:133540 UMLS:C0009207 |
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| label |
Cockayne syndrome |
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| notation |
ORPHA:191 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_183500 http://www.orpha.net/ORDO/Orphanet_182070 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_611327 |
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| prefixIRI |
ORDO:Orphanet_191 |
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| prefLabel |
Cockayne syndrome |
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| present_in |
Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.45 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown Germany AND has_birth_prevalence_average_value : 0.09 AND has_birth_prevalence_range : <1 / 1 000 000 France AND has_birth_prevalence_average_value : 0.18 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_183500 http://www.orpha.net/ORDO/Orphanet_182070 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_611327 |
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| subClassOf |