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xeroderma pigmentosum group A

Go to external page http://purl.obolibrary.org/obo/MONDO_0010210

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

Synonyms: xeroderma pigmentosum, complementation group type a xeroderma pigmentosum 1 XP-A xeroderma pigmentosum group type A xeroderma pigmentosum complementation group A XP1 XPA xeroderma pigmentosum caused by mutation in XPA XPA xeroderma pigmentosum XP group A xeroderma pigmentosum, group A xeroderma pigmentosum group A

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:5624 (OMIM:278700)
  • SCTID:43477006 (MONDO:equivalentTo)
  • NCIT:C3965 (MONDO:equivalentTo)
  • OMIM:278700 (MONDO:equivalentTo)
  • Orphanet:276249 (OMIM:278700)
  • DOID:0110843 (MONDO:equivalentTo)
  • UMLS:C0268135 (NCIT:C3965)
Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://identifiers.org/snomedct/43477006

http://purl.obolibrary.org/obo/NCIT_C3965

https://omim.org/entry/278700

http://purl.obolibrary.org/obo/DOID_0110843

http://linkedlifedata.com/resource/umls/id/C0268135

has related synonym

XP, group A

xeroderma pigmentosum, complementation group A

xeroderma pigmentosum, type 1

id

MONDO:0010210

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010210

Term relations

Subclass of: