{"Name":"Localized dystrophic epidermolysis bullosa","DiseaseID__c":"GARD:0022388","id":22388,"encodedName":"localized-dystrophic-epidermolysis-bullosa","IsDeleted":false,"Disease_Name_Full__c":"Localized dystrophic epidermolysis bullosa","Xref_IDs__c":"254186008; C0474885; MEDGEN:634276; MONDO:0035349; ORPHA:595356","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0035349","Disease_Description__c":"A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form).","GARD_Name__c":"Localized dystrophic epidermolysis bullosa","GARD_Synonym__c":"localised deb; localized deb","Curated_Disease_Description_Source__c":"MONDO:0035349","Curated_Disease_Description__c":"A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:595356","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0035349","ORPHANET_ID__c":"ORPHA:595356","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa distrófica localizada","Spanish_Description_Source__c":"ORPHA:595356","Spanish_Description__c":"Es una forma localizada de epidermólisis ampollosa distrófica caracterizada por ampollas que se localizan principalmente en las manos y los pies (forma acral) o a la región pretibial (forma pretibial). La distrofia ungueal o pérdida de uñas es común y puede ser un hallazgo aislado (sólo ungueal).","Spanish_Disease_Name__c":"epidermólisis ampollosa distrófica localizada","Spanish_GARD_Synonym__c":"ead localizada","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 localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form).","Curated_Disease_Description_Source__c":"MONDO:0035349","GARD_Synonym__c":"localised deb; localized deb","Name":"Localized dystrophic epidermolysis bullosa","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:595356"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:595356"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=634276","Source__c":"C0474885","Xref__c":"MEDGEN:634276"},{"URL__c":"https://www.orpha.net/en/disease/detail/595356","Source__c":"C0474885; MONDO:0035349; ORPHA:595356","Xref__c":"ORPHA:595356"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0474885","Source__c":"C0474885","Xref__c":"C0474885"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254186008","Source__c":"C0474885","Xref__c":"254186008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035349","Source__c":"GARD:0022388","Xref__c":"MONDO:0035349"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["localised deb"," localized deb"]}