{"Name":"Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome","DiseaseID__c":"GARD:0000299","id":299,"encodedName":"late-onset-localized-junctional-epidermolysis-bullosa-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome","Xref_IDs__c":"C1856969; C535492; MEDGEN:341663; MONDO:0009177; OMIM:226440; ORPHA:231556","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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:231556","Disease_Description__c":"A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.","GARD_Name__c":"Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome","GARD_Synonym__c":"late-onset localized jeb-intellectual disability syndrome","Curated_Disease_Description_Source__c":"ORPHA:231556","Curated_Disease_Description__c":"A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:231556","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009177","ORPHANET_ID__c":"ORPHA:231556","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de epidermólisis ampollosa juntural localizada de inicio tardío-discapacidad intelectual","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de epidermólisis ampollosa juntural localizada de inicio tardío-discapacidad intelectual","Spanish_GARD_Synonym__c":"síndrome de epidermólisis bullosa juntural localizada de inicio tardío-discapacidad intelectual; síndrome de jeb localizada de inicio tardío-discapacidad intelectual","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 junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.","Curated_Disease_Description_Source__c":"ORPHA:231556","GARD_Synonym__c":"late-onset localized jeb-intellectual disability syndrome","Name":"Late-onset localized junctional epidermolysis bullosa-intellectual disability sy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epidermolysis Bullosa Medical Research Foundation","Website__c":"https://ebmrf.org/"},{"Account_Name__c":"EB Research Partnership","Website__c":"https://www.ebresearch.org/"},{"Account_Name__c":"DEBRA International","Website__c":"https://www.debra-international.org/"},{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.org/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:231556"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/231556","Source__c":"C1856969; MONDO:0009177","Xref__c":"ORPHA:231556"},{"URL__c":"https://www.omim.org/entry/226440","Source__c":"C1856969; MONDO:0009177; ORPHA:231556","Xref__c":"OMIM:226440"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856969","Source__c":"C1856969","Xref__c":"C1856969"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341663","Source__c":"C1856969","Xref__c":"MEDGEN:341663"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535492","Source__c":"MONDO:0009177","Xref__c":"C535492"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009177","Source__c":"GARD:0000299","Xref__c":"MONDO:0009177"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Dermatology","Odontology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology"]},"synonyms":["late-onset localized jeb-intellectual disability syndrome"]}