{"Name":"Isolated tracheo-esophageal fistula","DiseaseID__c":"GARD:0021895","id":21895,"encodedName":"isolated-tracheo-esophageal-fistula","IsDeleted":false,"Disease_Name_Full__c":"Isolated tracheo-esophageal fistula","Xref_IDs__c":"C35080; CN294157; MEDGEN:976409; MONDO:0018694; ORPHA:454750","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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:0018694","Disease_Description__c":"A congenital or acquired abnormal communication between the trachea and the esophagus.","GARD_Name__c":"Isolated tracheo-esophageal fistula","GARD_Synonym__c":"h-type tracheoesophageal fistula; isolated tracheoesophageal fistula; tracheo-esophageal fistula; tracheoesophageal fistula","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Isolated or H-type tracheoesophageal fistula (TEF) is a rare finding in which an abnormal connection exists between the esophagus, or tube that carries food from the mouth to the stomach, and the windpipe, or trachea. Isolated TEF occurs in the absence of esophageal atresia. Isolated or H-type TEF is usually diagnosed in the first few years of life. Early symptoms may include coughing, choking, or a bluish appearance of the skin or lips during feeding. Additional symptoms may include episodes of mild respiratory distress or recurrent pneumonia. H-type TEF may sometimes be associated with other findings such as heart defects.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:454750","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018694","ORPHANET_ID__c":"ORPHA:454750","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fístula traqueoesofágica aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"fístula traqueoesofágica aislada","Spanish_GARD_Synonym__c":"fístula traqueoesofágica tipo h","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":"Isolated or H-type tracheoesophageal fistula (TEF) is a rare finding in which an abnormal connection exists between the esophagus, or tube that carries food from the mouth to the stomach, and the windpipe, or trachea. Isolated TEF occurs in the absence of esophageal atresia. Isolated or H-type TEF is usually diagnosed in the first few years of life. Early symptoms may include coughing, choking, or a bluish appearance of the skin or lips during feeding. Additional symptoms may include episodes of mild respiratory distress or recurrent pneumonia. H-type TEF may sometimes be associated with other findings such as heart defects.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"h-type tracheoesophageal fistula; isolated tracheoesophageal fistula; tracheo-esophageal fistula; tracheoesophageal fistula","Name":"Isolated tracheo-esophageal fistula","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Federation of Esophageal Atresia and Tracheo-Esophageal Fistula Support Groups","Website__c":"https://www.we-are-eat.org/"},{"Account_Name__c":"Tracheo-Oesophageal Fistula Support","Website__c":"https://www.tofs.org.uk"}],"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":"Neonatal","Provided_By__c":"ORPHA:454750"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35080","Source__c":"MONDO:0018694","Xref__c":"C35080"},{"URL__c":"https://www.orpha.net/en/disease/detail/454750","Source__c":"CN294157; MONDO:0018694","Xref__c":"ORPHA:454750"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=976409","Source__c":"CN294157","Xref__c":"MEDGEN:976409"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018694","Source__c":"GARD:0021895","Xref__c":"MONDO:0018694"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN294157","Source__c":"CN294157","Xref__c":"CN294157"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:454750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200048","HPO_Name__c":"Cyanotic episode","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030842","HPO_Name__c":"Choking episodes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002788","HPO_Synonym__c":"Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent","HPO_Name__c":"Recurrent upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033362","HPO_Name__c":"Recurrent coughing spasms","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Gastroenterology","Pediatrics"]},"synonyms":["h-type tracheoesophageal fistula"," isolated tracheoesophageal fistula"," tracheo-esophageal fistula"," tracheoesophageal fistula"]}