{"Name":"Congenital bronchobiliary fistula","DiseaseID__c":"GARD:0001475","id":1475,"encodedName":"congenital-bronchobiliary-fistula","IsDeleted":false,"Disease_Name_Full__c":"Congenital bronchobiliary fistula","Xref_IDs__c":"719452004; C4304716; MEDGEN:930385; MONDO:0016080; ORPHA:2040","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016080","Disease_Description__c":"Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.","GARD_Name__c":"Congenital bronchobiliary fistula","GARD_Synonym__c":"congenital respiratory-biliary fistula","Curated_Disease_Description_Source__c":"MONDO:0016080","Curated_Disease_Description__c":"Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2040","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016080","ORPHANET_ID__c":"ORPHA:2040","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fístula respiratorio-biliar congénita","Spanish_Description_Source__c":"ORPHA:2040","Spanish_Description__c":"La fístula broncobiliar (FBB) congénita es un defecto del desarrollo poco frecuente caracterizado por una conexión anómala de la tráquea o bronquio con el conducto hepático izquierdo que se manifiesta como dificultad respiratoria, infecciones respiratorias recurrentes y expectoración o vómito biliar.","Spanish_Disease_Name__c":"fístula respiratorio-biliar congénita","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.","Curated_Disease_Description_Source__c":"MONDO:0016080","GARD_Synonym__c":"congenital respiratory-biliary fistula","Name":"Congenital bronchobiliary fistula","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory 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":"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":"Childhood","Provided_By__c":"ORPHA:2040"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304716","Source__c":"C4304716","Xref__c":"C4304716"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930385","Source__c":"C4304716","Xref__c":"MEDGEN:930385"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719452004","Source__c":"C4304716; MONDO:0016080","Xref__c":"719452004"},{"URL__c":"https://www.orpha.net/en/disease/detail/2040","Source__c":"C4304716; MONDO:0016080","Xref__c":"ORPHA:2040"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016080","Source__c":"GARD:0001475","Xref__c":"MONDO:0016080"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002777","HPO_Synonym__c":"Narrowing of windpipe","HPO_Name__c":"Tracheal stenosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Gastroenterology","Pediatrics"]},"synonyms":["congenital respiratory-biliary fistula"]}