Disease association ontology term - MONDO:0010211 - xeroderma pigmentosum group C
Term summary
- ID
- MONDO:0010211
- Name
- xeroderma pigmentosum group C
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.
