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xeroderma pigmentosum group F

Go to external page http://purl.obolibrary.org/obo/MONDO_0010215

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: xeroderma pigmentosum group type F xeroderma pigmentosum group F xeroderma pigmentosum VI XP-F xeroderma pigmentosum caused by mutation in ERCC4 XP group F xeroderma pigmentosum, group F ERCC4 xeroderma pigmentosum XP6 XPF xeroderma pigmentosum, complementation group type F XP, group F

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:5628 (OMIM:278760)
  • MESH:C562592 (MONDO:equivalentTo)
  • DOID:0110848 (MONDO:equivalentTo)
  • Orphanet:276264 (OMIM:278760)
  • SCTID:42530008 (MONDO:equivalentTo)
  • NCIT:C3968 (MONDO:equivalentTo)
  • OMIM:278760 (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/278760

http://purl.obolibrary.org/obo/DOID_0110848

http://identifiers.org/mesh/C562592

http://purl.obolibrary.org/obo/NCIT_C3968

http://identifiers.org/snomedct/42530008

has related synonym

xeroderma pigmentosum, complementation group F

xeroderma pigmentosum, type 6

xeroderma pigmentosum, type F/Cockayne syndrome

xeroderma pigmentosum 6

id

MONDO:0010215

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010215