{"Name":"Tubular duplication of the esophagus","DiseaseID__c":"GARD:0019745","id":19745,"encodedName":"tubular-duplication-of-the-esophagus","IsDeleted":false,"Disease_Name_Full__c":"Tubular duplication of the esophagus","Xref_IDs__c":"C4274729; MEDGEN:897945; MONDO:0015051; ORPHA:100048","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:0015051","Disease_Description__c":"A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.","GARD_Name__c":"Tubular duplication of the esophagus","GARD_Synonym__c":"congenital tubular duplication of esophagus","Curated_Disease_Description_Source__c":"MONDO:0015051","Curated_Disease_Description__c":"A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:100048","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015051","ORPHANET_ID__c":"ORPHA:100048","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Duplicación tubular aislada del esófago","Spanish_Description_Source__c":"ORPHA:100048","Spanish_Description__c":"Es una malformación esofágica congénita, poco frecuente y no sindrómica, caracterizada por una segunda estructura con lumen individual y mucosa escamosa estratificada y mucosa muscular que se encuentra dentro del esófago verdadero o adyacente a él ocasionando disfagia, náuseas, vómitos, dolor retroesternal y trastornos respiratorios (estridor y neumonía recurrente). Suele presentarse en la infancia.","Spanish_Disease_Name__c":"duplicación tubular aislada del esófago","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":"A rare, non-syndromic, congenital esophageal malformation characterized by a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lying within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in childhood.","Curated_Disease_Description_Source__c":"MONDO:0015051","GARD_Synonym__c":"congenital tubular duplication of esophagus","Name":"Tubular duplication of the esophagus","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://uts.nlm.nih.gov/uts/umls/concept/C4274729","Source__c":"C4274729","Xref__c":"C4274729"},{"URL__c":"https://www.orpha.net/en/disease/detail/100048","Source__c":"C4274729; MONDO:0015051; ORPHA:100048","Xref__c":"ORPHA:100048"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=897945","Source__c":"C4274729","Xref__c":"MEDGEN:897945"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015051","Source__c":"GARD:0019745","Xref__c":"MONDO:0015051"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716280004","Source__c":"C4274729","Xref__c":"716280004"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["congenital tubular duplication of esophagus"]}