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xeroderma pigmentosum

Go to external page http://purl.obolibrary.org/obo/MONDO_0019600

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). [ Orphanet:910 ]

Synonyms: Kaposi disease melanosis lenticularis progressiva xeroderma of Kaposi atrophoderma pigmentosum XP angioma pigmentosum atrophicum Kaposi dermatosis pigmented epitheliomatosis xeroderma pigmentosum syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050427 (MONDO:equivalentTo)
  • ICD10CM:Q82.1 (Orphanet:910/specific)
  • NCIT:C3452 (MONDO:equivalentTo)
  • GARD:7910 (Orphanet:910)
  • Orphanet:910 (MONDO:equivalentTo)
  • MESH:D014983 (Orphanet:910/e)
  • MedDRA:10048220 (Orphanet:910/e)
  • NORD:1870 (MONDO:NORD)
  • SCTID:44600005 (MONDO:equivalentTo)
  • UMLS:C0043346 (Orphanet:910/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/1567

closeMatch

http://identifiers.org/meddra/10048220

exactMatch

http://identifiers.org/mesh/D014983

http://purl.obolibrary.org/obo/DOID_0050427

http://purl.obolibrary.org/obo/NCIT_C3452

http://purl.bioontology.org/ontology/ICD10CM/Q82.1

http://www.orpha.net/ORDO/Orphanet_910

http://identifiers.org/snomedct/44600005

http://linkedlifedata.com/resource/umls/id/C0043346

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015333

has related synonym

xeroderma pigmentosa

id

MONDO:0019600

seeAlso

https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum

Term relations