{"Name":"Congenital esophageal diverticulum","DiseaseID__c":"GARD:0019165","id":19165,"encodedName":"congenital-esophageal-diverticulum","IsDeleted":false,"Disease_Name_Full__c":"Congenital esophageal diverticulum","Xref_IDs__c":"204667006; C0266133; MEDGEN:539704; MONDO:0019620; ORPHA:91358; Q39.6","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019620","Disease_Description__c":"A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations.","GARD_Name__c":"Congenital esophageal diverticulum","GARD_Synonym__c":"congenital diverticulum of esophagus; congenital esophageal pouch","Curated_Disease_Description_Source__c":"MONDO:0019620","Curated_Disease_Description__c":"A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:91358","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019620","ORPHANET_ID__c":"ORPHA:91358","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Divertículo esofágico congénito","Spanish_Description_Source__c":"ORPHA:91358","Spanish_Description__c":"Es una malformación esofágica congénita, poco frecuente y no sindrómica, caracterizada por un falso divertículo, localizado con mayor frecuencia en la parte superior y posterior del esófago (faringo-esofágico), pero que puede ocurrir en cualquier parte del esófago (medio-torácico o epifrénico). Muchos pacientes son asintomáticos; la alitosis, la tos crónica, la dificultad respiratoria, la regurgitación de alimentos, la disfagia, el dolor o el malestar torácico y la neumonía por aspiración son manifestaciones clínicas típicas como presentación inicial.","Spanish_Disease_Name__c":"divertículo esofágico congénito","Spanish_GARD_Synonym__c":"bolsa esofágica congénita","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":"A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations.","Curated_Disease_Description_Source__c":"MONDO:0019620","GARD_Synonym__c":"congenital diverticulum of esophagus; congenital esophageal pouch","Name":"Congenital esophageal diverticulum","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":"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204667006","Source__c":"C0266133; MONDO:0019620","Xref__c":"204667006"},{"URL__c":"https://www.orpha.net/en/disease/detail/91358","Source__c":"C0266133; MONDO:0019620; ORPHA:91358","Xref__c":"ORPHA:91358"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=539704","Source__c":"C0266133","Xref__c":"MEDGEN:539704"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266133","Source__c":"C0266133","Xref__c":"C0266133"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019620","Source__c":"GARD:0019165","Xref__c":"MONDO:0019620"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q39.6","Source__c":"MONDO:0019620","Xref__c":"Q39.6"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["congenital diverticulum of esophagus"," congenital esophageal pouch"]}