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Echinobase
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: xeroderma pigmentosum IV, xeroderma pigmentosum VIII, XP group D, XP group H, XP4, XP8, XPDC, XPH, XPD

Echinobase Genes : ercc2


MIM:
MIM:278730 - xeroderma pigmentosum, complementation group d; xpd

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)