{"Name":"Lethal acantholytic epidermolysis bullosa","DiseaseID__c":"GARD:0009910","id":9910,"encodedName":"lethal-acantholytic-epidermolysis-bullosa","IsDeleted":false,"Disease_Name_Full__c":"Lethal acantholytic epidermolysis bullosa","Xref_IDs__c":"C1864826; C535493; MEDGEN:400622; MONDO:0012323; OMIM:609638; ORPHA:158687","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012323","Disease_Description__c":"Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.","GARD_Name__c":"Lethal acantholytic epidermolysis bullosa","GARD_Synonym__c":"ebla; laeb; 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laeb; lethal acantholytic erosive disorder","Name":"Lethal acantholytic epidermolysis bullosa","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":"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":"Neonatal","Provided_By__c":"ORPHA:158687"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:158687"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1864826"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009910","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864826","Source__c":"C1864826","Xref__c":"C1864826"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535493","Source__c":"MONDO:0012323","Xref__c":"C535493"},{"URL__c":"https://www.omim.org/entry/609638","Source__c":"C1864826; 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