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xeroderma pigmentosum group E

Go to external page http://purl.obolibrary.org/obo/MONDO_0010213

An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer. [ NCIT:C114771 ]

Synonyms: xeroderma pigmentosum group type E XP group E XP-E xeroderma pigmentosum, group E, DDB-negative subtype xeroderma pigmentosum group E XP5 XPE xeroderma pigmentosum, complementation group type E xeroderma pigmentosum V

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:276261 (OMIM:278740)
  • MESH:C564732 (MONDO:equivalentTo)
  • SCTID:56048001 (MONDO:equivalentTo)
  • UMLS:C1848411 (OMIM:278740)
  • OMIM:278740 (MONDO:equivalentTo)
  • GARD:5627 (OMIM:278740)
  • DOID:0110846 (MONDO:equivalentTo)
  • NCIT:C114771 (MONDO:equivalentTo)
Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C1848411

http://purl.obolibrary.org/obo/DOID_0110846

https://omim.org/entry/278740

http://purl.obolibrary.org/obo/NCIT_C114771

http://identifiers.org/mesh/C564732

http://identifiers.org/snomedct/56048001

has related synonym

xeroderma pigmentosum, complementation group E

xeroderma pigmentosum, type 5

XP, Group E

XPe

xeroderma pigmentosum 5

id

MONDO:0010213

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010213

Term relations

Subclass of: