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UV-sensitive syndrome

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.
Disease Ontology Description An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).
Mondo Term and Equivalent IDs
MONDO:0015797:  UV-sensitive syndrome
GARD:0010947: 
MESH:C563466: 
OMIMPS:600630: 
Orphanet:178338: 
SCTID:698253007: