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Summary Literature (0)
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: XP group D, XP group H, XP4, XP8, XPD, XPDC, XPH, xeroderma pigmentosum IV, xeroderma pigmentosum VIII

Xenbase Genes : ercc2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010212 - xeroderma pigmentosum group D

OMIM:
OMIM:278730 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD

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

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