Term Name: | xeroderma pigmentosum group A |
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Synonyms: | xeroderma pigmentosum 1, xeroderma pigmentosum complementation group A, XP group A, XP1, XPA |
Definition: | 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. |
Ontology: | Human Disease [DOID:0110843] ( DOID:0110843 ) |