{"Name":"Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency","DiseaseID__c":"GARD:0017690","id":17690,"encodedName":"epidermolysis-bullosa-simplex-3-localized-or-generalized-intermediate-with-bp230-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency","Xref_IDs__c":"C3809470; MEDGEN:815800; MONDO:0014180; OMIM:615425; ORPHA:412181","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:412181","Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.","GARD_Name__c":"Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency","GARD_Synonym__c":"dst-related epidermolysis bullosa simplex; ebs due to bp230 deficiency; ebs-ar bp230; ebs3; epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency; epidermolysis bullosa simplex due to bp230 deficiency; epidermolysis bullosa simplex, autosomal recessive 2; epidermolysis bullosa simplex, autosomal recessive type 2","Curated_Disease_Description_Source__c":"ORPHA:412181","Curated_Disease_Description__c":"A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:412181","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014180","ORPHANET_ID__c":"ORPHA:412181","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa simple por deficiencia de bp230","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"epidermólisis ampollosa simple por deficiencia de bp230","Spanish_GARD_Synonym__c":"ebs por deficiencia de bp230; epidermólisis ampollosa simple asociada a dst; epidermólisis bullosa simple por deficiencia de bp230","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, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.","Curated_Disease_Description_Source__c":"ORPHA:412181","GARD_Synonym__c":"dst-related epidermolysis bullosa simplex; ebs due to bp230 deficiency; ebs-ar bp230; ebs3; epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency; epidermolysis bullosa simplex due to bp230 deficiency; epidermolysis bullosa simplex, autosomal recessive 2; epidermolysis bullosa simplex, autosomal recessive type 2","Name":"Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:412181"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1369","Source__c":"Gene Review","Xref__c":"NBK1369"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=815800","Source__c":"C3809470","Xref__c":"MEDGEN:815800"},{"URL__c":"https://www.omim.org/entry/615425","Source__c":"C3809470; MONDO:0014180; ORPHA:412181","Xref__c":"OMIM:615425"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3809470","Source__c":"C3809470","Xref__c":"C3809470"},{"URL__c":"https://www.orpha.net/en/disease/detail/412181","Source__c":"C3809470; MONDO:0014180","Xref__c":"ORPHA:412181"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014180","Source__c":"GARD:0017690","Xref__c":"MONDO:0014180"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DST","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615425","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032449","HPO_Name__c":"Abnormal dermoepidermal hemidesmosome morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615425","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615425","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001810","HPO_Synonym__c":"Dystrophic toenail changes; Poor toenail formation","HPO_Name__c":"Dystrophic toenail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["dst-related epidermolysis bullosa simplex"," ebs due to bp230 deficiency"," ebs-ar bp230"," ebs3"," epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency"," epidermolysis bullosa simplex due to bp230 deficiency"," epidermolysis bullosa simplex, autosomal recessive 2"," epidermolysis bullosa simplex, autosomal recessive type 2"]}