Search Ontology:
Human Disease

xeroderma pigmentosum group A

Term ID
DOID:0110843
Synonyms
  • xeroderma pigmentosum 1
  • xeroderma pigmentosum complementation group A
  • XP group A
  • XP1
  • XPA
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. (2)
References
Ontology
Human Disease   ( DOID:0110843 )
Relationships
is a type of
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Genes Involved
Zebrafish Models