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Date: Tue Jan 28 2025
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xeroderma pigmentosum group A
DOID:0110843
Summary
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Disease
xeroderma pigmentosum group A
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.
[1]
[2]
Synonyms
xeroderma pigmentosum 1
xeroderma pigmentosum complementation group A
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Cross References
ICD10CM:Q82.1
MIM:278700
Parent Terms
xeroderma pigmentosum
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
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