Preferred Name |
xeroderma pigmentosum |
|
Synonyms |
DeSanctis Cacchione syndrome |
|
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. |
|
ID |
http://purl.bioontology.org/ontology/CSP/1849-9833 |
|
altLabel |
DeSanctis Cacchione syndrome |
|
cui |
C0265201 C0043346 |
|
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. |
|
DID |
1849-9833 |
|
Inverse of RB | ||
Inverse of RO |
http://purl.bioontology.org/ontology/CSP/2102-8256 |
|
notation |
1849-9833 |
|
prefLabel |
xeroderma pigmentosum |
|
tui |
T047 T019 |
|
subClassOf |
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