Term Name: xeroderma pigmentosum group A
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.
Ontology: Human Disease [DOID:0110843]   ( DOID:0110843 )

Relationships
is a type of: xeroderma pigmentosum