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xeroderma pigmentosum

Disease Summary
Associated Targets (23)
Tbio

17

Tchem

6


GARD Rare
Mondo Description Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).
Disease Ontology Description An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
Mondo Term and Equivalent IDs
MONDO:0019600:  xeroderma pigmentosum
GARD:0007910: 
ICD10:Q82.1: 
MESH:D014983: 
NCIT:C3452: 
Orphanet:910: 
SCTID:44600005: 
UMLS:C0043346: