loading...| Preferred Name |
Xeroderma Pigmentosum |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C3452 |
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| 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. |
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| code |
C3452 |
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| Contributing_Source |
Cellosaurus CCPS CTRP |
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| 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. |
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| Display_Name |
Xeroderma Pigmentosum |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C177281 |
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| label |
Xeroderma Pigmentosum |
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| Legacy Concept Name |
Xeroderma_Pigmentosum |
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| Preferred_Name |
Xeroderma Pigmentosum |
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| prefixIRI |
NCIT:C3452 |
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| prefLabel |
Xeroderma Pigmentosum |
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| Related_To_Genetic_Biomarker |
http://purl.obolibrary.org/obo/NCIT_C20361 http://purl.obolibrary.org/obo/NCIT_C97870 http://purl.obolibrary.org/obo/NCIT_C93075 http://purl.obolibrary.org/obo/NCIT_C20557 http://purl.obolibrary.org/obo/NCIT_C20558 http://purl.obolibrary.org/obo/NCIT_C20555 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0043346 |
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| subClassOf |
http://purl.obolibrary.org/obo/NCIT_C156032 |