FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term xeroderma pigmentosum group E ID (Ontology) DOID:0110846 (Human Disease)
Definition A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.
Also Known As "xeroderma pigmentosum V" ; "XP group E" ; "XP5" (for all, see Synonyms field below)
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autosomal recessive disease__
syndrome_____________________|
                             xeroderma pigmentosum
                              |__xeroderma pigmentosum group E
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Synonyms
  • "xeroderma pigmentosum V" EXACT
    "XP group E" EXACT
    "XP5" EXACT OMO:0003012
    "XPE" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q82.1
MIM:278740