Term Name: xeroderma pigmentosum group E
Synonyms: xeroderma pigmentosum V, XP group E, XP5, XPE
Definition: A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.
Ontology: Human Disease [DOID:0110846]   ( DOID:0110846 )

Relationships
is a type of: xeroderma pigmentosum