{"Name":"Congenital tracheobronchomegaly","DiseaseID__c":"GARD:0003793","id":3793,"encodedName":"congenital-tracheobronchomegaly","IsDeleted":false,"Disease_Name_Full__c":"Congenital tracheobronchomegaly","Xref_IDs__c":"57451009; C0040587; C85196; D014137; MEDGEN:11871; MONDO:0010148; OMIM:275300; ORPHA:3347","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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010148","Disease_Description__c":"A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.","GARD_Name__c":"Congenital tracheobronchomegaly","GARD_Synonym__c":"idiopathic tracheobronchomegaly; mounier-kuhn syndrome; mounier-kühn syndrome; tracheobronchomegaly","Curated_Disease_Description_Source__c":"GARD:0003793","Curated_Disease_Description__c":"Mounier-Kuhn syndrome is a lung disorder that causes the respiratory tract to dilate or enlarge. People with this condition develop frequent respiratory tract infections and recurrent cough. The condition can be diagnosed by lung function tests, bronchoscopy, and a chest CT scan. The cause of Mounier-Kuhn syndrome is unknown, although cigarette smoke and air pollutants may act as irritating factors. Some cases are associated with connective tissue diseases such as Ehlers-Danlos syndrome, Marfan syndrome, and cutis laxa and may be inherited.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3347","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010148","ORPHANET_ID__c":"ORPHA:3347","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mounier-kühn","Spanish_Description_Source__c":"ORPHA:3347","Spanish_Description__c":"Es un trastorno respiratorio congénito poco frecuente caracterizado por una acusada dilatación de la tráquea y los bronquios proximales que provoca problemas en el aclaramiento de las secreciones de las vías respiratorias e infecciones recurrentes del tracto respiratorio inferior.","Spanish_Disease_Name__c":"síndrome de mounier-kühn","Spanish_GARD_Synonym__c":"traqueobroncomegalia; traqueobroncomegalia congénita; traqueobroncomegalia idiopática","Category_Linearization__c":"ORPHA:97955","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":"Mounier-Kuhn syndrome is a lung disorder that causes the respiratory tract to dilate or enlarge. People with this condition develop frequent respiratory tract infections and recurrent cough. The condition can be diagnosed by lung function tests, bronchoscopy, and a chest CT scan. The cause of Mounier-Kuhn syndrome is unknown, although cigarette smoke and air pollutants may act as irritating factors. Some cases are associated with connective tissue diseases such as Ehlers-Danlos syndrome, Marfan syndrome, and cutis laxa and may be inherited.","Curated_Disease_Description_Source__c":"GARD:0003793","GARD_Synonym__c":"idiopathic tracheobronchomegaly; mounier-kuhn syndrome; mounier-kühn syndrome; tracheobronchomegaly","Name":"Congenital tracheobronchomegaly","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:3347"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C014137","Source__c":"C0040587; MONDO:0010148","Xref__c":"D014137"},{"URL__c":"https://www.orpha.net/en/disease/detail/3347","Source__c":"C0040587; MONDO:0010148; ORPHA:3347","Xref__c":"ORPHA:3347"},{"URL__c":"https://www.omim.org/entry/275300","Source__c":"C0040587; MONDO:0010148; ORPHA:3347","Xref__c":"OMIM:275300"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85196","Source__c":"C0040587; MONDO:0010148","Xref__c":"C85196"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=11871","Source__c":"C0040587","Xref__c":"MEDGEN:11871"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0040587","Source__c":"C0040587","Xref__c":"C0040587"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=57451009","Source__c":"MONDO:0010148","Xref__c":"57451009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010148","Source__c":"GARD:0003793","Xref__c":"MONDO:0010148"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006538","HPO_Synonym__c":"Recurrent bronchopneumonia","HPO_Name__c":"Recurrent bronchopulmonary infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010776","HPO_Name__c":"Tracheobronchmegaly","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012387","HPO_Name__c":"Bronchitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3347","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:3347","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002086","HPO_Synonym__c":"Respiratory abnormality","HPO_Name__c":"Abnormality of the respiratory system","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Pediatrics"]},"synonyms":["idiopathic tracheobronchomegaly"," mounier-kuhn syndrome"," mounier-kühn syndrome"," tracheobronchomegaly"]}