{"Name":"Autoimmune enteropathy","DiseaseID__c":"GARD:0008689","id":8689,"encodedName":"autoimmune-enteropathy","IsDeleted":false,"Disease_Name_Full__c":"Autoimmune enteropathy","Xref_IDs__c":"235728001; C0341305; C538273; C94694; MEDGEN:83322; MONDO:0019787; ORPHA:94075","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019787","Disease_Description__c":"Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.","GARD_Name__c":"Autoimmune enteropathy","GARD_Synonym__c":"immune-mediated protracted diarrhea of infancy; immune-mediated protracted diarrhoea of infancy; severe immune-mediated enteropathy","Curated_Disease_Description_Source__c":"MONDO:0019787","Curated_Disease_Description__c":"Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:94075","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019787","ORPHANET_ID__c":"ORPHA:94075","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enteropatía grave mediada por el sistema inmunitario","Spanish_Description_Source__c":"ORPHA:94075","Spanish_Description__c":"La enteropatía grave de origen inmunitario describe una variedad de enfermedades intestinales que pueden van desde una grave enfermedad sistémica de aparición temprana (IPEX; consulte este término), a una enfermedad leve gastrointestinal aislada. En niños, se manifiesta como diarrea y deshidratación grave en presencia de anticuerpos característicos (células anti-enterocitos y anti-cubiletes) y en adultos como diarrea crónica, malabsorción y pérdida de peso.","Spanish_Disease_Name__c":"enteropatía grave mediada por el sistema inmunitario","Spanish_GARD_Synonym__c":"diarrea inmunomediada prolongada de la infancia; enteropatía autoinmune","Category_Linearization__c":"ORPHA:97935","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":"Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.","Curated_Disease_Description_Source__c":"MONDO:0019787","GARD_Synonym__c":"immune-mediated protracted diarrhea of infancy; immune-mediated protracted diarrhoea of infancy; severe immune-mediated enteropathy","Name":"Autoimmune enteropathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C94694","Source__c":"C0341305; MONDO:0019787","Xref__c":"C94694"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83322","Source__c":"C0341305","Xref__c":"MEDGEN:83322"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0341305","Source__c":"C0341305","Xref__c":"C0341305"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538273","Source__c":"MONDO:0019787","Xref__c":"C538273"},{"URL__c":"https://www.orpha.net/en/disease/detail/94075","Source__c":"C0341305; MONDO:0019787; ORPHA:94075","Xref__c":"ORPHA:94075"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=235728001","Source__c":"C0341305; MONDO:0019787","Xref__c":"235728001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019787","Source__c":"GARD:0008689","Xref__c":"MONDO:0019787"}],"tags":{"Disease Category":["Gastroenterology"],"Specialist":["Gastroenterology"]},"synonyms":["immune-mediated protracted diarrhea of infancy"," immune-mediated protracted diarrhoea of infancy"," severe immune-mediated enteropathy"]}