You are using an outdated browser. Please upgrade your browser to improve your experience.
xeroderma pigmentosum group E
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110846
GARD:0005627
MESH:C564732
NCIT:C114771
OMIM:278740
SCTID:56048001
UMLS:C1848411
MONDO:0010213
High level summary of knowledge for a disease, including descriptions and datasource references.