{"Name":"Esophageal duplication cyst","DiseaseID__c":"GARD:0019744","id":19744,"encodedName":"esophageal-duplication-cyst","IsDeleted":false,"Disease_Name_Full__c":"Esophageal duplication cyst","Xref_IDs__c":"721161005; C4303524; MEDGEN:929193; MONDO:0015050; ORPHA:100047","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:0015050","Disease_Description__c":"A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.","GARD_Name__c":"Esophageal duplication cyst","GARD_Synonym__c":"duplication cyst of esophagus","Curated_Disease_Description_Source__c":"MONDO:0015050","Curated_Disease_Description__c":"A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:100047","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015050","ORPHANET_ID__c":"ORPHA:100047","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Quiste de duplicación esofágica aislado","Spanish_Description_Source__c":"ORPHA:100047","Spanish_Description__c":"Es una malformación esofágica poco frecuente, congénita y no sindrómica, caracterizada por masas quísticas tubulares o esféricas que presentan una doble capa de músculo liso circundante revestida de epitelio escamoso o entérico, y son continuas o contiguas al esófago. El quiste suele estar localizado distalmente y puede comunicarse o no con la luz del esófago. La mayoría se vuelven sintomáticos y presentan una amplia gama de síntomas, como disfagia, tos no productiva, dolor torácico o fallo de medro. También se ha descrito otros síntomas, como palpitaciones por arritmia cardíaca, dolor de espalda torácico y fiebre por mediastinitis.","Spanish_Disease_Name__c":"quiste de duplicación esofágica aislado","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, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0015050","GARD_Synonym__c":"duplication cyst of esophagus","Name":"Esophageal duplication cyst","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://www.orpha.net/en/disease/detail/100047","Source__c":"C4303524; MONDO:0015050; ORPHA:100047","Xref__c":"ORPHA:100047"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721161005","Source__c":"C4303524; MONDO:0015050","Xref__c":"721161005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303524","Source__c":"C4303524","Xref__c":"C4303524"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929193","Source__c":"C4303524","Xref__c":"MEDGEN:929193"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015050","Source__c":"GARD:0019744","Xref__c":"MONDO:0015050"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["duplication cyst of esophagus"]}