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xeroderma pigmentosum group A

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.
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. XP-A patients show the most severe skin symptoms and progressive neurological disorders.
Mondo Term and Equivalent IDs
MONDO:0010210:  xeroderma pigmentosum group A
GARD:0005624: 
NCIT:C3965: 
SCTID:43477006: 
UMLS:C0268135: