{"Name":"Idiopathic malabsorption due to bile acid synthesis defects","DiseaseID__c":"GARD:0019046","id":19046,"encodedName":"idiopathic-malabsorption-due-to-bile-acid-synthesis-defects","IsDeleted":false,"Disease_Name_Full__c":"Idiopathic malabsorption due to bile acid synthesis defects","Xref_IDs__c":"C4274509; MEDGEN:900722; MONDO:0019393; ORPHA:84065","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019393","Disease_Description__c":"A dirsorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.","GARD_Name__c":"Idiopathic malabsorption due to bile acid synthesis defects","GARD_Synonym__c":"idiopathic bile acid malabsorption; intestinal malabsorption due to bile acid synthesis defect","Curated_Disease_Description_Source__c":"MONDO:0019393","Curated_Disease_Description__c":"A disorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:84065","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019393","ORPHANET_ID__c":"ORPHA:84065","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malabsoción idiopática por defectos de la síntesis de ácidos biliares","Spanish_Description_Source__c":"ORPHA:84065","Spanish_Description__c":"Es un trastorno debido a un aumento en la síntesis de ácidos biliares es una enfermedad intestinal de etiología desconocida que se caracteriza por una sobreproducción de ácidos biliares que dan lugar a una diarrea acuosa crónica.","Spanish_Disease_Name__c":"malabsoción idiopática por defectos de la síntesis de ácidos biliares","Spanish_GARD_Synonym__c":null,"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":"A disorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.","Curated_Disease_Description_Source__c":"MONDO:0019393","GARD_Synonym__c":"idiopathic bile acid malabsorption; intestinal malabsorption due to bile acid synthesis defect","Name":"Idiopathic malabsorption due to bile acid synthesis defects","estimateUsa":""}],"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":"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"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=900722","Source__c":"C4274509","Xref__c":"MEDGEN:900722"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274509","Source__c":"C4274509","Xref__c":"C4274509"},{"URL__c":"https://www.orpha.net/en/disease/detail/84065","Source__c":"C4274509; MONDO:0019393; ORPHA:84065","Xref__c":"ORPHA:84065"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717186009","Source__c":"C4274509","Xref__c":"717186009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019393","Source__c":"GARD:0019046","Xref__c":"MONDO:0019393"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["idiopathic bile acid malabsorption"," intestinal malabsorption due to bile acid synthesis defect"]}