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DOID:0110845 - xeroderma pigmentosum group D
Disease Ontology Definition:A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.
Synonyms: xeroderma pigmentosum IV, xeroderma pigmentosum VIII, XP4, XP8, XPD, XPDC, XP group D, XP group H, XPH
Xenbase Genes : ercc2
MONDO:0010212 - xeroderma pigmentosum group D |
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)