loading...| Preferred Name |
Xeroderma Pigmentosum |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3452 |
| ALT_DEFINITION |
A genetic condition marked by an extreme sensitivity to ultraviolet radiation, including sunlight. People with xeroderma pigmentosum are not able to repair skin damage from the sun and other sources of ultraviolet radiation, and have a very high risk of skin cancer. |
| code |
C3452 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
| Contributing_Source |
CTRP CCPS Cellosaurus |
| DEFINITION |
An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities. |
| Display_Name |
Xeroderma Pigmentosum |
| FULL_SYN |
Xeroderma of Kaposi Kaposi Dermatosis Atrophoderma Pigmentosum xeroderma pigmentosum Melanosis Lenticularis Progressiva Pigmented Epitheliomatosis Xeroderma Pigmentosum Syndrome Kaposi Disease Angioma Pigmentosum Atrophicum Xeroderma Pigmentosum |
| label |
Xeroderma Pigmentosum |
| Legacy Concept Name |
Xeroderma_Pigmentosum |
| Preferred_Name |
Xeroderma Pigmentosum |
| prefixIRI |
Thesaurus:C3452 |
| prefLabel |
Xeroderma Pigmentosum |
| Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C91285 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20557 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20558 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20361 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C93075 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97870 |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0043346 |
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7757 |