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xeroderma pigmentosum group D

Go to external page http://purl.obolibrary.org/obo/MONDO_0010212

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: XP8 XP-D xeroderma pigmentosum caused by mutation in ERCC2 XPD XPH xeroderma pigmentosum, complementation group type D xeroderma pigmentosum group type D xeroderma pigmentosum VIII xeroderma pigmentosum, group D xeroderma pigmentosum group D XP group H ERCC2 xeroderma pigmentosum XP4 XPDC XP group D xeroderma pigmentosum IV

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:16452 (OMIM:278730)
  • Orphanet:276258 (OMIM:278730)
  • SCTID:68637004 (MONDO:equivalentTo)
  • MESH:C562591 (MONDO:equivalentTo)
  • OMIM:278730 (MONDO:equivalentTo)
  • DOID:0110845 (MONDO:equivalentTo)
  • NCIT:C3967 (MONDO:equivalentTo)
Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://purl.obolibrary.org/obo/DOID_0110845

http://identifiers.org/mesh/C562591

https://omim.org/entry/278730

http://identifiers.org/snomedct/68637004

http://purl.obolibrary.org/obo/NCIT_C3967

has related synonym

xeroderma pigmentosum 4

XP4 xeroderma pigmentosum VIII, formerly

XP, Group H

XP, Group H, formerly

xeroderma pigmentosum, complementation group D

XP, Group D

XP4 xeroderma pigmentosum VIII

id

MONDO:0010212

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010212