loading...| Preferred Name |
Xeroderma pigmentosum |
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| Synonyms |
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| Definitions |
Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_910 |
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| definition |
Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms). |
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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=910 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
OMIM:278740 OMIM:278700 MedDRA:10048220 MeSH:D014983 OMIM:610651 OMIM:278730 OMIM:194400 OMIM:278720 OMIM:278760 OMIM:278780 ICD-11:LD27.1 ICD-10:Q82.1 UMLS:C0043346 |
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| label |
Xeroderma pigmentosum |
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| notation |
ORPHA:910 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_79390 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_183490 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_522530 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_98571 http://www.orpha.net/ORDO/Orphanet_519270 |
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| prefixIRI |
ORDO:Orphanet_910 |
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| prefLabel |
Xeroderma pigmentosum |
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| present_in |
Italy AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.23 AND has_birth_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.18 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.41 AND has_birth_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000 Japan AND has_point_prevalence_average_value : 4.5 AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Libyan Arab Jamahiriya AND has_annual_incidence_average_value : 1.75 AND has_annual_incidence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_79390 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_183490 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_522530 http://www.orpha.net/ORDO/Orphanet_611314 http://www.orpha.net/ORDO/Orphanet_98571 http://www.orpha.net/ORDO/Orphanet_519270 |
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| subClassOf |