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Metadata
ID DOID:0110848
Name xeroderma pigmentosum group F
Definition A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.
https://www.ncbi.nlm.nih.gov/pubmed/23623389, https://www.ncbi.nlm.nih.gov/pubmed/8797827
Xrefs

ICD10CM:Q82.1

MIM:278760

Synonyms

xeroderma pigmentosum VI [EXACT]

XP group F [EXACT]

XP6 [EXACT]

XPF [EXACT]

Parent Relationships

is_a xeroderma pigmentosum

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