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xeroderma pigmentosum group C

Go to external page http://purl.obolibrary.org/obo/MONDO_0010211

An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. [ NCIT:C114770 ]

Synonyms: xeroderma pigmentosum, complementation group type C XPCC xeroderma pigmentosum group type C XP-C xeroderma pigmentosum group C xeroderma pigmentosum III XP3 XPC xeroderma pigmentosum, group C XP group C

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C2752147 (OMIM:278720)
  • Orphanet:276255 (OMIM:278720)
  • NCIT:C114770 (MONDO:equivalentTo)
  • DOID:0110844 (MONDO:equivalentTo)
  • SCTID:25784009 (MONDO:equivalentTo)
  • MESH:C567886 (MONDO:equivalentTo)
  • GARD:5626 (OMIM:278720)
  • OMIM:278720 (MONDO:equivalentTo)
Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

https://omim.org/entry/278720

http://identifiers.org/snomedct/25784009

http://linkedlifedata.com/resource/umls/id/C2752147

http://purl.obolibrary.org/obo/NCIT_C114770

http://identifiers.org/mesh/C567886

http://purl.obolibrary.org/obo/DOID_0110844

has related synonym

xeroderma pigmentosum, type 3

xeroderma pigmentosum 3

xeroderma pigmentosum, complementation group C

XP, Group C

id

MONDO:0010211

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010211

Term relations

Subclass of: