JSON

xeroderma pigmentosum-Cockayne syndrome complex

^ http://purl.obolibrary.org/obo/MONDO_0016354

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS). [ Orphanet:220295 ]

Term info

database cross reference
  • UMLS:CN201205 (MONDO:equivalentTo)
  • Orphanet:220295 (MONDO:equivalentTo)
  • NCIT:C156031 (MONDO:equivalentTo)
  • ICD10CM:Q82.1 (Orphanet:220295/nd)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/1567, https://github.com/monarch-initiative/mondo/issues/5588

definition

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).

exactMatch

http://purl.obolibrary.org/obo/NCIT_C156031, http://purl.obolibrary.org/obo/Orphanet_220295, http://linkedlifedata.com/resource/umls/id/CN201205

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019303, http://purl.obolibrary.org/obo/MONDO_0015333, http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

XP/CS complex

id

MONDO:0016354