{"Name":"Paraneoplastic pemphigus","DiseaseID__c":"GARD:0018858","id":18858,"encodedName":"paraneoplastic-pemphigus","IsDeleted":false,"Disease_Name_Full__c":"Paraneoplastic pemphigus","Xref_IDs__c":"423022635; C1112570; DOID:0080852; L10.81; MEDGEN:798302; MONDO:0018974; ORPHA:63455","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018974","Disease_Description__c":"A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.","GARD_Name__c":"Paraneoplastic pemphigus","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0018974","Curated_Disease_Description__c":"A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:63455","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018974","ORPHANET_ID__c":"ORPHA:63455","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Penfigoide paraneoplásico","Spanish_Description_Source__c":"ORPHA:63455","Spanish_Description__c":"Es una forma poco frecuente de enfermedad cutánea ampollosa autoinmune caracterizada por unas lesiones cutáneas poliformativas, que suelen aparecer en las membranas mucosas orales y, por lo general, se asocian a un linfoma o a una leucemia linfática crónica.","Spanish_Disease_Name__c":"penfigoide paraneoplásico","Spanish_GARD_Synonym__c":null,"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 form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.","Curated_Disease_Description_Source__c":"MONDO:0018974","Name":"Paraneoplastic pemphigus","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.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:63455"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1112570","Source__c":"C1112570","Xref__c":"C1112570"},{"URL__c":"https://www.orpha.net/en/disease/detail/63455","Source__c":"C1112570; MONDO:0018974; ORPHA:63455","Xref__c":"ORPHA:63455"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=798302","Source__c":"C1112570","Xref__c":"MEDGEN:798302"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L10.81","Source__c":"MONDO:0018974","Xref__c":"L10.81"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080852","Source__c":"MONDO:0018974","Xref__c":"DOID:0080852"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018974","Source__c":"GARD:0018858","Xref__c":"MONDO:0018974"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022635","Xref__c":"423022635"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:63455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tumor originating from the epithelial cells of the thymus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100522","HPO_Name__c":"Thymoma","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63455","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:63455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of lymphoma that originates in B-cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012191","HPO_Synonym__c":"B cell lymphoma","HPO_Name__c":"B-cell lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000155","HPO_Synonym__c":"Mouth ulcer; Oral mucosal ulceration","HPO_Name__c":"Oral ulcer","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100242","HPO_Synonym__c":"Cancer of connective tissue; Malignant connective tissue tumor","HPO_Name__c":"Sarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:63455","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":[""]}