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Metadata
ID DOID:0110845
Name xeroderma pigmentosum group D
Definition A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.
https://www.ncbi.nlm.nih.gov/pubmed/7849702
Xrefs

ICD10CM:Q82.1

OMIM:278730

Synonyms

xeroderma pigmentosum IV [EXACT]

xeroderma pigmentosum VIII [EXACT]

XP group D [EXACT]

XP group H [EXACT]

XP4 [EXACT]

XP8 [EXACT]

XPD [EXACT]

XPDC [EXACT]

XPH [EXACT]

Parent Relationships

is_a xeroderma pigmentosum

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