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DOID:0050427 - xeroderma pigmentosum
Disease Ontology Definition:An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
Synonyms:
Echinobase Genes : ercc4, ercc2, polh, xpa
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)