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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-9833
http://purl.bioontology.org/ontology/CSP/1849-9833
|
|---|---|
| Preferred Name | xeroderma pigmentosum |
| Definitions |
rare pigmentary atrophic autosomal recessive disease manifested as an extreme photosensitivity to ultraviolet light as the result of a deficiency in the enzyme that permits excisional repair of utraviolet damaged DNA.
|
| Synonyms |
DeSanctis Cacchione syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | rare pigmentary atrophic autosomal recessive disease manifested as an extreme photosensitivity to ultraviolet light as the result of a deficiency in the enzyme that permits excisional repair of utraviolet damaged DNA. |
|---|---|
| altLabel | DeSanctis Cacchione syndrome
|
| prefLabel | xeroderma pigmentosum
|
| Inverse of RO | |
| type | |
| tui |
T047
T019
|
| notation | 1849-9833
|
| Semantic type UMLS property | |
| DID | 1849-9833
|
| cui |
C0265201
C0043346
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |