XP1XPAxeroderma pigmentosum complementation group Axeroderma pigmentosum 1XP group A
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.