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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
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)