{"Name":"Epidermolysis bullosa","DiseaseID__c":"GARD:0006359","id":6359,"encodedName":"epidermolysis-bullosa","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa","Xref_IDs__c":"61003004; C0014527; C67383; D004820; DOID:2730; MEDGEN:41832; MONDO:0006541; Q81","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0006541","Disease_Description__c":"Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.","GARD_Name__c":"Epidermolysis bullosa","GARD_Synonym__c":"acantholysis bullosa; acanthosis bullosa; bullous recurrent eruption; dermatitis bullosa hereditaria; eb - epidermolysis bullosa; fox disease; keratolysis bullosa hereditaria","Curated_Disease_Description_Source__c":"GARD:0006359","Curated_Disease_Description__c":"Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of EB, which are classified based on the depth, or level, of blister formation: Epidermolysis bullosa simplex Dystrophic Epidermolysis bullosa Junctional Epidermolysis bullosa Kindler Syndrome EB may then be further classified based on severity and specific symptoms, such as distribution (localized or generalized) and whether parts of the body other than the skin are affected. Specific sub-types may then be determined based on identifying the exact protein that is defective in a person with EB. This may be done by tests performed on a skin biopsy, or when possible, genetic testing. Identifying the exact sub-type can be hard because there are many sub-types of EB. A person with any main type of EB may be mildly or severely affected, and the disease can range from being a minor inconvenience requiring modifying activities, to completely disabling and even fatal in some cases. EB may be caused by changes in at least 18 genes that play various roles in the structure, integrity, and repair of the skin. Inheritance may be autosomal dominant or autosomal recessive depending on the type and subtype of EB a person has.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0006541","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of EB, which are classified based on the depth, or level, of blister formation: Epidermolysis bullosa simplex Dystrophic Epidermolysis bullosa Junctional Epidermolysis bullosa Kindler Syndrome EB may then be further classified based on severity and specific symptoms, such as distribution (localized or generalized) and whether parts of the body other than the skin are affected. Specific sub-types may then be determined based on identifying the exact protein that is defective in a person with EB. This may be done by tests performed on a skin biopsy, or when possible, genetic testing. Identifying the exact sub-type can be hard because there are many sub-types of EB. A person with any main type of EB may be mildly or severely affected, and the disease can range from being a minor inconvenience requiring modifying activities, to completely disabling and even fatal in some cases. EB may be caused by changes in at least 18 genes that play various roles in the structure, integrity, and repair of the skin. Inheritance may be autosomal dominant or autosomal recessive depending on the type and subtype of EB a person has.","Curated_Disease_Description_Source__c":"GARD:0006359","GARD_Synonym__c":"acantholysis bullosa; acanthosis bullosa; bullous recurrent eruption; dermatitis bullosa hereditaria; eb - epidermolysis bullosa; fox disease; keratolysis bullosa hereditaria","Name":"Epidermolysis bullosa","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ben's Friends","Website__c":"https://www.bensfriends.org/"},{"Account_Name__c":"Asociación Española de Pediatría","Website__c":"https://www.aeped.es/"},{"Account_Name__c":"DebRA Chile","Website__c":"https://debrachile.cl/"},{"Account_Name__c":"debra Costa Rica","Website__c":"https://www.debracr.org/"},{"Account_Name__c":"Asociación Piel de Mariposa","Website__c":"https://www.pieldemariposa.es/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.org/"},{"Account_Name__c":"DEBRA International","Website__c":"https://www.debra-international.org/"},{"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/"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C67383","Source__c":"C0014527; MONDO:0006541","Xref__c":"C67383"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=41832","Source__c":"C0014527","Xref__c":"MEDGEN:41832"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004820","Source__c":"C0014527; MONDO:0006541","Xref__c":"D004820"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q81","Source__c":"MONDO:0006541","Xref__c":"Q81"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61003004","Source__c":"C0014527; MONDO:0006541","Xref__c":"61003004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2730","Source__c":"MONDO:0006541","Xref__c":"DOID:2730"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0014527","Source__c":"C0014527","Xref__c":"C0014527"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006541","Source__c":"GARD:0006359","Xref__c":"MONDO:0006541"},{"URL__c":"https://www.niams.nih.gov/health-topics/epidermolysis-bullosa"}],"tags":{},"synonyms":["acantholysis bullosa"," acanthosis bullosa"," bullous recurrent eruption"," dermatitis bullosa hereditaria"," eb - epidermolysis bullosa"," fox disease"," keratolysis bullosa hereditaria"],"spanishId":12000,"spanishName":"epidermolisis-ampollosa"}