You are using an outdated browser. Please upgrade your browser to improve your experience.
xeroderma pigmentosum group G
Disease Summary
Associated Targets (6)
Tchem
3
Tbio
3
Mondo Description Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.
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. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.
Disease Ontology Description A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.
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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110849
GARD:0005629
MESH:C562593
NCIT:C3969
OMIM:278780
SCTID:36454001
UMLS:C0268141
MONDO:0010216
High level summary of knowledge for a disease, including descriptions and datasource references.