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xeroderma pigmentosum group C

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.
Uniprot Description An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities.
Mondo Term and Equivalent IDs
MONDO:0010211:  xeroderma pigmentosum group C
GARD:0005626: 
MESH:C567886: 
NCIT:C114770: 
SCTID:25784009: 
UMLS:C2752147: