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xeroderma pigmentosum variant type

Go to external page http://purl.obolibrary.org/obo/MONDO_0010214

Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer. [ Orphanet:90342 ]

Synonyms: xeroderma pigmentosum with normal DNA repair rates photosensitivity with defective DNA synthesis xeroderma pigmentosum variant type XPV

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0110847 (MONDO:equivalentTo)
  • UMLS:C1848410 (Orphanet:90342/e)
  • NCIT:C141367 (MONDO:equivalentTo)
  • MESH:C536766 (Orphanet:90342/e)
  • Orphanet:90342 (OMIM:278750)
  • GARD:5630 (Orphanet:90342)
  • OMIM:278750 (Orphanet:90342/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0110847

http://www.orpha.net/ORDO/Orphanet_90342

http://identifiers.org/mesh/C536766

https://omim.org/entry/278750

http://purl.obolibrary.org/obo/NCIT_C141367

http://linkedlifedata.com/resource/umls/id/C1848410

has related synonym

xeroderma pigmentosum variant

xeroderma pigmentosum, variant type

id

MONDO:0010214

seeAlso

https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant-type

https://search.clinicalgenome.org/kb/conditions/MONDO:0010214

Term relations

Subclass of: