{"Name":"Epidermolytic nevus","DiseaseID__c":"GARD:0022016","id":22016,"encodedName":"epidermolytic-nevus","IsDeleted":false,"Disease_Name_Full__c":"Epidermolytic nevus","Xref_IDs__c":"400142003; C1302848; MEDGEN:724389; MONDO:0044656; ORPHA:497737","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:497737","Disease_Description__c":"A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma.","GARD_Name__c":"Epidermolytic nevus","GARD_Synonym__c":"epidermal nevus with epidermolytic hyperkeratosis; epidermolytic epidermal nevus; epidermolytic verrucous epidermal nevus","Curated_Disease_Description_Source__c":"ORPHA:497737","Curated_Disease_Description__c":"A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:497737","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044656","ORPHANET_ID__c":"ORPHA:497737","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nevo epidermolítico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"nevo epidermolítico","Spanish_GARD_Synonym__c":"nevo epidérmico con hiperqueratosis epidermolítica; nevo epidérmico epidermolítico; nevo epidérmico verrugoso epidermolítico; nevus epidérmico epidermolítico","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":"A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma.","Curated_Disease_Description_Source__c":"ORPHA:497737","GARD_Synonym__c":"epidermal nevus with epidermolytic hyperkeratosis; epidermolytic epidermal nevus; epidermolytic verrucous epidermal nevus","Name":"Epidermolytic nevus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Nevus Outreach, Inc.","Website__c":"https://www.nevus.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:497737"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/497737","Source__c":"C1302848; MONDO:0044656; ORPHA:497737","Xref__c":"ORPHA:497737"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400142003","Source__c":"C1302848; MONDO:0044656","Xref__c":"400142003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=724389","Source__c":"C1302848","Xref__c":"MEDGEN:724389"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1302848","Source__c":"C1302848","Xref__c":"C1302848"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044656","Source__c":"GARD:0022016","Xref__c":"MONDO:0044656"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=787086003","Source__c":"C1302848","Xref__c":"787086003"}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["epidermal nevus with epidermolytic hyperkeratosis"," epidermolytic epidermal nevus"," epidermolytic verrucous epidermal nevus"]}