Term Name: | xeroderma pigmentosum group D |
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Synonyms: | xeroderma pigmentosum IV, xeroderma pigmentosum VIII, XP group D, XP group H, XP4, XP8, XPD, XPDC, XPH |
Definition: | A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. |
Ontology: | Human Disease [DOID:0110845] ( DOID:0110845 ) |