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xeroderma pigmentosum-Cockayne syndrome complex

Go to external page 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 ]

Synonyms: XP/CS complex

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:220295 (MONDO:equivalentTo)
  • UMLS:C4304411 (MONDO:equivalentTo)
  • GARD:17130 (Orphanet:220295)
  • ICD10CM:Q82.1 (Orphanet:220295/nd)
  • NCIT:C156031 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6744

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

https://github.com/monarch-initiative/mondo/issues/6878

https://github.com/monarch-initiative/mondo/issues/6752

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

https://github.com/monarch-initiative/mondo/issues/6750

comment

This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)

exactMatch

http://purl.obolibrary.org/obo/NCIT_C156031

http://www.orpha.net/ORDO/Orphanet_220295

http://linkedlifedata.com/resource/umls/id/C4304411

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019303

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

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0016354

Term relations