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Summary Literature (0)
DOID:0110843 - xeroderma pigmentosum group A

Disease Ontology 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.

Synonyms: XP group A, XP1, XPA, xeroderma pigmentosum 1, xeroderma pigmentosum complementation group A

Echinobase Genes : xpa

OMIM:278700 - xeroderma pigmentosum, complementation group a; xpa

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): xeroderma pigmentosum (is_a)