loading...| Preferred Name | xeroderma pigmentosum | |
| Synonyms |
xeroderma pigmentosa Kaposi dermatosis xeroderma pigmentosum syndrome angioma pigmentosum atrophicum xeroderma of Kaposi pigmented epitheliomatosis atrophoderma pigmentosum melanosis lenticularis progressiva Kaposi disease XP |
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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). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019600 |
|
| database_cross_reference |
MedDRA:10048220 NANDO:1200608 DOID:0050427 icd11.foundation:1243068849 Orphanet:910 NANDO:2100286 NANDO:2201002 SCTID:44600005 MEDGEN:21943 MESH:D014983 UMLS:C0043346 ICD10CM:Q82.1 GARD:7910 NCIT:C3452 NORD:1870 |
|
| 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). |
|
| has_exact_synonym |
Kaposi dermatosis xeroderma pigmentosum syndrome angioma pigmentosum atrophicum xeroderma of Kaposi pigmented epitheliomatosis atrophoderma pigmentosum melanosis lenticularis progressiva Kaposi disease XP |
|
| has_related_synonym |
xeroderma pigmentosa |
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| IAO_0000233 | ||
| id |
MONDO:0019600 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
xeroderma pigmentosum |
|
| notation |
MONDO:0019600 |
|
| preferred label |
xeroderma pigmentosum |
|
| prefLabel |
xeroderma pigmentosum |
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| see also |
https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_910 http://purl.bioontology.org/ontology/ICD10CM/Q82.1 http://purl.obolibrary.org/obo/NCIT_C3452 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1243068849 http://linkedlifedata.com/resource/umls/id/C0043346 http://identifiers.org/medgen/21943 http://purl.obolibrary.org/obo/DOID_0050427 |
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| subClassOf | ||
| excluded_subClassOf |