{"Name":"Bullous pemphigoid","DiseaseID__c":"GARD:0005972","id":5972,"encodedName":"bullous-pemphigoid","IsDeleted":false,"Disease_Name_Full__c":"Bullous pemphigoid","Xref_IDs__c":"77090002; C0030805; C84389; D010391; DOID:8506; L12.0; MEDGEN:10620; MONDO:0019082; ORPHA:703","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019082","Disease_Description__c":"A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.","GARD_Name__c":"Bullous pemphigoid","GARD_Synonym__c":"benign pemphigus; bp - bullous pemphigoid; old age pemphigus; parapemphigus; senile dermatitis herpetiformis","Curated_Disease_Description_Source__c":"GARD:0005972","Curated_Disease_Description__c":"Bullous pemphigoid is a skin disorder characterized by large blisters. The blisters are usually located on the arms, legs, or middle of the body. In some people, the mouth or genitals are also affected. The blisters may break open and form ulcers or open sores. Bullous pemphigoid usually occurs in older persons and is rare in young people. Symptoms may come and go. Bullous pemphigoid is an autoimmune disorder which occurs when the body's immune system attacks and destroys healthy body tissue by mistake.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:703","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019082","ORPHANET_ID__c":"ORPHA:703","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Penfigoide ampolloso","Spanish_Description_Source__c":"ORPHA:703","Spanish_Description__c":"Es una enfermedad cutánea ampollosa autoinmunitaria poco frecuente caracterizada por ampollas subepidérmicas tensas adquiridas que se originan en la piel normal o alterada. Por lo general las lesiones están distribuidas de manera extensa (regiones flexoras de la parte proximal de brazos y piernas, axilas, ingles y abdomen) y, a menudo, se asocia a prurito. La evolución es típicamente crónica, con exacerbaciones y remisiones espontáneas.","Spanish_Disease_Name__c":"penfigoide ampolloso","Spanish_GARD_Synonym__c":"penfigoide bulloso","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":"Bullous pemphigoid is a skin disorder characterized by large blisters. The blisters are usually located on the arms, legs, or middle of the body. In some people, the mouth or genitals are also affected. The blisters may break open and form ulcers or open sores. Bullous pemphigoid usually occurs in older persons and is rare in young people. Symptoms may come and go. Bullous pemphigoid is an autoimmune disorder which occurs when the body's immune system attacks and destroys healthy body tissue by mistake.","Curated_Disease_Description_Source__c":"GARD:0005972","GARD_Synonym__c":"benign pemphigus; bp - bullous pemphigoid; old age pemphigus; parapemphigus; senile dermatitis herpetiformis","Name":"Bullous pemphigoid","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"},{"Account_Name__c":"International Pemphigus & Pemphigoid Foundation","Website__c":"https://www.pemphigus.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"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":"All ages","Provided_By__c":"ORPHA:703"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005972","Source__c":"RareSource"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L12.0","Source__c":"MONDO:0019082","Xref__c":"L12.0"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010391","Source__c":"C0030805; MONDO:0019082","Xref__c":"D010391"},{"URL__c":"https://www.orpha.net/en/disease/detail/703","Source__c":"C0030805; MONDO:0019082; ORPHA:703","Xref__c":"ORPHA:703"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8506","Source__c":"MONDO:0019082","Xref__c":"DOID:8506"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=77090002","Source__c":"C0030805; MONDO:0019082","Xref__c":"77090002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0030805","Source__c":"C0030805","Xref__c":"C0030805"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84389","Source__c":"C0030805; MONDO:0019082","Xref__c":"C84389"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10620","Source__c":"C0030805","Xref__c":"MEDGEN:10620"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=86142006","Source__c":"C0030805","Xref__c":"86142006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019082","Source__c":"GARD:0005972","Xref__c":"MONDO:0019082"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34908","Source__c":"C0030805","Xref__c":"C34908"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blisters arising in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200097","HPO_Synonym__c":"Blebs of oral mucosa; Blisters of mouth; Bullae of oral mucosa; Oral blistering; Oral mucosal blisters","HPO_Name__c":"Oral mucosal blisters","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against BP180.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000020","HPO_Name__c":"Anti-BP180 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033106","HPO_Synonym__c":"Elevated D-dimers; Elevated fibrin degradation fragment concentration","HPO_Name__c":"Elevated circulating D-dimer concentration","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000019","HPO_Name__c":"Anti-BP230 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:703","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"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["benign pemphigus"," bp - bullous pemphigoid"," old age pemphigus"," parapemphigus"," senile dermatitis herpetiformis"]}