{"Name":"Benign mucous membrane pemphigoid","DiseaseID__c":"GARD:0005913","id":5913,"encodedName":"benign-mucous-membrane-pemphigoid","IsDeleted":false,"Disease_Name_Full__c":"Benign mucous membrane pemphigoid","Xref_IDs__c":"34250006; 76092003; C0030804; C34907; DOID:11656; L12.1; MEDGEN:10619; MONDO:0018746; ORPHA:46486","USA_Estimate__c":"5,000","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":"8,000 to 80,000","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":5,"Description_Source__c":"MONDO:0018746","Disease_Description__c":"A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.","GARD_Name__c":"Benign mucous membrane pemphigoid","GARD_Synonym__c":"benign mucosal pemphigoid; cicatricial pemphigoid; mucosal pemphigoid; mucosynechia atrophic bullous dermatitis; mucosynechial pemphigoid; mucous membrane pemphigoid; scarring pemphigoid","Curated_Disease_Description_Source__c":"GARD:0005913","Curated_Disease_Description__c":"Mucous membrane pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. Scarring of the affected mucosa of the eye may lead to blindness. A combination of environmental and genetic factors appear to play a role in the susceptibility of developing cicatricial pemphigoid. Although the specific causes of this condition have not been identified, it is considered an autoimmune disease that is characterized by the production of autoantibodies against basement membrane zone antigens such as BP180, BP230, and laminin 5.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:46486","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018746","ORPHANET_ID__c":"ORPHA:46486","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Penfigoide de la membrana mucosa","Spanish_Description_Source__c":"ORPHA:46486","Spanish_Description__c":"Es una enfermedad cutánea ampollosa autoinmune poco frecuente caracterizada clínicamente por el desarrollo de ampollas en las mucosas seguido de lesiones cicatriciales. Inmunológicamente se caracterizará por depósitos de IgG, IgA y/o C3 en la membrana basal epidérmica. La enfermedad afectará principalmente a la mucosa oral, pero también puede afectar a las mucosas oculares, faringolaríngeas, genitales y esofágicas.","Spanish_Disease_Name__c":"penfigoide de la membrana mucosa","Spanish_GARD_Synonym__c":"penfigoide cicatricial; penfigoide mucosinequial; penfigoide mucoso","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":"Mucous membrane pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. Scarring of the affected mucosa of the eye may lead to blindness. A combination of environmental and genetic factors appear to play a role in the susceptibility of developing cicatricial pemphigoid. Although the specific causes of this condition have not been identified, it is considered an autoimmune disease that is characterized by the production of autoantibodies against basement membrane zone antigens such as BP180, BP230, and laminin 5.","Curated_Disease_Description_Source__c":"GARD:0005913","GARD_Synonym__c":"benign mucosal pemphigoid; cicatricial pemphigoid; mucosal pemphigoid; mucosynechia atrophic bullous dermatitis; mucosynechial pemphigoid; mucous membrane pemphigoid; scarring pemphigoid","Name":"Benign mucous membrane pemphigoid","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Adolescent","Provided_By__c":"ORPHA:46486"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:46486"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:46486"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:46486"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:46486"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34907","Source__c":"C0030804; MONDO:0018746","Xref__c":"C34907"},{"URL__c":"https://www.orpha.net/en/disease/detail/46486","Source__c":"C0030804; MONDO:0018746; ORPHA:46486","Xref__c":"ORPHA:46486"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=76092003","Source__c":"MONDO:0018746","Xref__c":"76092003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10619","Source__c":"C0030804","Xref__c":"MEDGEN:10619"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11656","Source__c":"MONDO:0018746","Xref__c":"DOID:11656"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0030804","Source__c":"C0030804","Xref__c":"C0030804"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=34250006","Source__c":"C0030804","Xref__c":"34250006"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L12.1","Source__c":"MONDO:0018746","Xref__c":"L12.1"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010390","Source__c":"C0030804","Xref__c":"D010390"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018746","Source__c":"GARD:0005913","Xref__c":"MONDO:0018746"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:46486","HPO_Frequency__c":"Very frequent (80-99%)","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:46486","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:46486","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:46486","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypically scarred skin .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000987","HPO_Synonym__c":"Atypical scarring; Atypical scarring of skin","HPO_Name__c":"Atypical scarring of skin","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46486","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46486","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000230","HPO_Synonym__c":"Gingival inflammation; Inflamed gums; Red and swollen gums","HPO_Name__c":"Gingivitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46486","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology"],"Disease Category":["Dermatology","Congenital Abnormality"]},"synonyms":["benign mucosal pemphigoid"," cicatricial pemphigoid"," mucosal pemphigoid"," mucosynechia atrophic bullous dermatitis"," mucosynechial pemphigoid"," mucous membrane pemphigoid"," scarring pemphigoid"]}