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

Xenbase Genes : xpa

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010210 - blood clot

MIM:
MIM:278700 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA

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

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