xeroderma pigmentosum group E
An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.
MONDO:0019600
xeroderma pigmentosum
is_a
XP-E
exact
XP5
exact
XPE
exact
xeroderma pigmentosum group E
exact
xeroderma pigmentosum group type E
exact
xeroderma pigmentosum, complementation group type E
exact
xeroderma pigmentosum, group E, DDB-negative subtype
exact
xeroderma pigmentosum, type 5
related