Term Name: xeroderma pigmentosum group D
Synonyms: xeroderma pigmentosum IV, xeroderma pigmentosum VIII, XP group D, XP group H, XP4, XP8, XPD, XPDC, XPH
Definition: A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.
Ontology: Human Disease [DOID:0110845]   ( DOID:0110845 )

Relationships
is a type of: xeroderma pigmentosum