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Summary Literature (0)
DOID:0050427 - xeroderma pigmentosum

Disease Ontology Definition:A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.


Xenbase Genes : ercc2, ercc5, ddb2, xpa, ercc4, xpc, polh, ercc6, ercc3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019600 - xeroderma pigmentosum

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)