{"Name":"UV-sensitive syndrome","DiseaseID__c":"GARD:0010947","id":10947,"encodedName":"uv-sensitive-syndrome","IsDeleted":false,"Disease_Name_Full__c":"UV-sensitive syndrome","Xref_IDs__c":"698253007; C1833561; C563466; DOID:0060240; MEDGEN:322222; MONDO:0015797; OMIMPS:600630; ORPHA:178338","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015797","Disease_Description__c":"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.","GARD_Name__c":"UV-sensitive syndrome","GARD_Synonym__c":"ultraviolet sensitive syndrome; uv (ultraviolet) sensitive syndrome; uvss - ultraviolet sensitive syndrome","Curated_Disease_Description_Source__c":"MONDO:0015797","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:178338","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015797","ORPHANET_ID__c":"ORPHA:178338","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sensibilidad a uv","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de sensibilidad a uv","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0015797","GARD_Synonym__c":"ultraviolet sensitive syndrome; uv (ultraviolet) sensitive syndrome; uvss - ultraviolet sensitive syndrome","Name":"UV-sensitive syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:178338"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010947","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/178338","Source__c":"C1833561; MONDO:0015797; ORPHA:178338","Xref__c":"ORPHA:178338"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322222","Source__c":"C1833561","Xref__c":"MEDGEN:322222"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563466","Source__c":"MONDO:0015797","Xref__c":"C563466"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060240","Source__c":"MONDO:0015797","Xref__c":"DOID:0060240"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=698253007","Source__c":"C1833561; MONDO:0015797","Xref__c":"698253007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833561","Source__c":"C1833561","Xref__c":"C1833561"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS600630","Source__c":"MONDO:0015797","Xref__c":"OMIMPS:600630"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015797","Source__c":"GARD:0010947","Xref__c":"MONDO:0015797"},{"URL__c":"https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome","Source__c":"GARD:0010947","Xref__c":"https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ERCC8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ercc8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"UVSSA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/uvssa","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ERCC6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ercc6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ultraviolet sensitive syndrome"," uv (ultraviolet) sensitive syndrome"," uvss - ultraviolet sensitive syndrome"]}