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 A ID (Ontology) DOID:0110843 (Human Disease)
Definition A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.
Also Known As "xeroderma pigmentosum 1" ; "xeroderma pigmentosum complementation group A" ; "XP group A" (for all, see Synonyms field below)
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 Genes
 xeroderma pigmentosum group A       1
 for disease ribbon | xeroderma pigmentosum group A       1
 model of | xeroderma pigmentosum group A       1
Spanning Tree (Parents/Children)
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autosomal recessive disease__
syndrome_____________________|
                             xeroderma pigmentosum
                              |__xeroderma pigmentosum group A  1 rec.
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Is a xeroderma pigmentosum
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Synonyms
  • "xeroderma pigmentosum 1" EXACT
    "xeroderma pigmentosum complementation group A" EXACT
    "XP group A" EXACT
    "XP1" EXACT OMO:0003012
    "XPA" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q82.1
MIM:278700