{ "id": 6815, "label": "respiratory system disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005087", "properties": { "xrefs": [ "DOID:1579", "EFO:0000684", "ICD10CM:J00-J99", "ICD9:460-519", "ICD9:500-508", "ICD9:503", "ICD9:508", "ICD9:508.1", "ICD9:508.8", "ICD9:508.9", "ICD9:510-519", "ICD9:516", "ICD9:516.8", "ICD9:516.9", "ICD9:517", "ICD9:517.8", "ICD9:519", "ICD9:519.1", "ICD9:519.3", "ICD9:519.8", "ICD9:519.9", "ICD9:V12.60", "ICD9:V47.2", "MEDGEN:48421", "MESH:D012140", "NANDO:1100010", "NCIT:C26871", "SCTID:50043002", "UMLS:C0035204" ], "synonyms": [ "disease of respiratory system", "disease or disorder of respiratory system", "disorder of respiratory system", "respiratory disease", "respiratory disorder", "respiratory system disease", "respiratory system disease or disorder", "respiratory system disorder" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." }, "isLeaf": false, "isRoot": false, "child_count": 59, "parents": [ { "id": 29379, "label": "disease by body system or component", "isLeaf": false, "isRoot": false, "parents": [ 24492 ], "type_id": 0, "properties": { "definition": "A grouping class for human diseases classified by the body system or anatomical component primarily affected." }, "child_count": 19, "reference_id": "MONDO:7770006" } ], "children": [ { "id": 2809, "label": "lower respiratory tract disorder", "isLeaf": false, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050161", "EFO:0009433", "ICD9:478.1", "ICD9:478.19", "MEDGEN:712703", "SCTID:128272009", "UMLS:C1290325", "icd11.foundation:1582386590" ], "synonyms": [ "disease of lower respiratory tract", "disease or disorder of lower respiratory tract", "disorder of lower respiratory tract", "lower respiratory tract disease", "lower respiratory tract disease or disorder" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A disease involving the lower respiratory tract." }, "child_count": 5, "reference_id": "MONDO:0000270" }, { "id": 2875, "label": "respiratory system cancer", "isLeaf": false, "isRoot": false, "parents": [ 6733, 6815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050615", "ICD10CM:C34", "ICD9:165.8", "ICD9:165.9", "MEDGEN:756863", "NCIT:C4571", "SCTID:449096009", "UMLS:C3164456", "icd11.foundation:401100796" ], "synonyms": [ "cancer of respiratory system", "malignant neoplasm of respiratory system", "malignant respiratory system neoplasm", "respiratory system cancer" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A malignant neoplasm involving the respiratory system" }, "child_count": 18, "reference_id": "MONDO:0000376" }, { "id": 2881, "label": "respiratory system benign neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6815, 6887 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050621", "MEDGEN:635669", "NCIT:C8531", "SCTID:255166003", "UMLS:C0497556" ], "synonyms": [ "respiratory system benign neoplasm" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A benign neoplasm that involves the respiratory system." }, "child_count": 30, "reference_id": "MONDO:0000382" }, { "id": 3133, "label": "allergic respiratory disease", "isLeaf": false, "isRoot": false, "parents": [ 6815, 6969 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060496", "MEDGEN:734246", "UMLS:C1504369" ], "synonyms": [ "allergic form of respiratory system disease", "allergic respiratory system disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A respiratory system disease with a basis in a pathological type I hypersensitivity reaction." }, "child_count": 8, "reference_id": "MONDO:0000771" }, { "id": 3922, "label": "paranasal sinus disorder", "isLeaf": false, "isRoot": false, "parents": [ 4522, 6815, 21562 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1352", "EFO:0009481", "ICD9:478.1", "MEDGEN:14608", "MESH:D010254", "NCIT:C26843", "SCTID:7393007", "UMLS:C0030469" ], "synonyms": [ "disease of paranasal sinus", "disease or disorder of paranasal sinus", "disorder of paranasal sinus", "paranasal sinus disease", "paranasal sinus disease or disorder", "paranasal sinus disorder", "sinus disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A disease involving the paranasal sinus." }, "child_count": 21, "reference_id": "MONDO:0001735" }, { "id": 6623, "label": "upper respiratory tract disorder", "isLeaf": false, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:974", "ICD9:478.1", "ICD9:478.19", "ICD9:478.9", "MEDGEN:538406", "SCTID:201060008", "UMLS:C0264221" ], "synonyms": [ "disease of upper respiratory tract", "disease or disorder of upper respiratory tract", "disorder of upper respiratory tract", "upper respiratory tract disease", "upper respiratory tract disease or disorder" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A disease involving the upper respiratory tract." }, "child_count": 10, "reference_id": "MONDO:0004867" }, { "id": 6805, "label": "pertussis", "isLeaf": true, "isRoot": false, "parents": [ 6815, 22987 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1116", "EFO:0000650", "GARD:0008692", "ICD9:033", "ICD9:033.0", "ICD9:033.9", "MEDGEN:12159", "MESH:D014917", "MedDRA:10034738", "MedDRA:10047974", "NCIT:C85231", "NORD:1569", "Orphanet:1489", "SCTID:27836007", "UMLS:C0043167" ], "synonyms": [ "Bordetella infection", "Bordetella pertussis caused disease or disorder", "Bordetella pertussis disease or disorder", "Bordetella pertussis infection", "Bordetella pertussis infectious disease", "pertussis", "whooping cough", "infection due to Bordetella pertussis" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough." }, "child_count": 0, "reference_id": "MONDO:0005077" }, { "id": 6818, "label": "severe acute respiratory syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6815, 20092, 20156 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2945", "EFO:0000694", "GARD:0009237", "ICD9:079.82", "MEDGEN:262817", "MESH:D045169", "MedDRA:10061982", "NCIT:C85064", "Orphanet:140896", "SCTID:398447004", "UMLS:C1175175", "icd11.foundation:652944603" ], "synonyms": [ "SARS", "SARS coronavirus caused disease or disorder", "SARS coronavirus disease or disorder", "SARS coronavirus infectious disease", "acute respiratory coronavirus infection" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." }, "child_count": 0, "reference_id": "MONDO:0005091" }, { "id": 6990, "label": "sleep apnea syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5338, 6815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050847", "EFO:0003877", "HP:0010535", "ICD10CM:G47.3", "ICD9:780.57", "MEDGEN:11458", "MESH:D012891", "NCIT:C148023", "SCTID:111489007", "SCTID:73430006", "UMLS:C0037315" ], "synonyms": [ "breathing-related sleep disorder", "SDB", "sleep apnea", "sleep apnea syndrome", "sleep apneas", "sleep disordered breathing", "sleep-disordered breathing", "apnea syndrome, sleep", "apnea syndromes, sleep", "apnea, sleep", "apneas, sleep", "breathing, sleep-disordered", "hypersomnia with periodic respiration", "hypopnea, sleep", "hypopneas, sleep", "mixed central and obstructive sleep apnea", "mixed sleep Apneas", "mixed sleep apnea", "sleep apnea, mixed", "sleep apnea, mixed central and obstructive", "sleep apneas, mixed", "sleep hypopnea", "sleep hypopneas" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep." }, "child_count": 4, "reference_id": "MONDO:0005296" }, { "id": 7354, "label": "diaphragm disorder", "isLeaf": false, "isRoot": false, "parents": [ 6815, 19743 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10481", "EFO:0007233", "GARD:0024224", "ICD9:519.4", "MEDGEN:508886", "SCTID:48475001", "UMLS:C0152097" ], "synonyms": [ "diaphragm disease", "diaphragm disease or disorder", "disease of diaphragm", "disease or disorder of diaphragm", "disorder of diaphragm", "diaphragmatic disease", "diaphragmatic disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A disease involving the diaphragm." }, "child_count": 10, "reference_id": "MONDO:0005728" }, { "id": 7636, "label": "pulmonary tuberculosis", "isLeaf": false, "isRoot": false, "parents": [ 6815, 18237 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2957", "EFO:1000049", "GARD:0024276", "ICD9:011", "ICD9:011.16", "ICD9:011.80", "ICD9:011.81", "ICD9:011.84", "ICD9:011.85", "ICD9:011.86", "ICD9:011.9", "ICD9:011.90", "ICD9:011.92", "ICD9:011.96", "MEDGEN:11947", "MESH:D014397", "NCIT:C26899", "SCTID:154283005", "UMLS:C0041327" ], "synonyms": [ "lung TB", "lung tuberculosis", "pulmonary TB" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss." }, "child_count": 6, "reference_id": "MONDO:0006052" }, { "id": 8099, "label": "altitude sickness", "isLeaf": false, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000782", "MEDGEN:229", "MESH:D000532", "UMLS:C0002351", "Wikipedia:Altitude_sickness", "icd11.foundation:987050905" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Multiple symptoms associated with reduced oxygen at high altitude." }, "child_count": 2, "reference_id": "MONDO:0006625" }, { "id": 8133, "label": "perinatal asphyxia", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11088", "EFO:1000824", "GARD:0019875", "ICD9:768.9", "MEDGEN:2469", "MESH:D001238", "NCIT:C116313", "Orphanet:137577", "SCTID:28314004", "UMLS:C0004045", "icd11.foundation:1281282034" ], "synonyms": [ "HIE", "asphyxia neonatorum", "birth asphyxia", "birth depression", "fetal asphyxia", "foetal asphyxia", "hypoxia neonatorum", "hypoxic-ischemic encephalopathy", "intrapartum asphyxia", "perinatal asphyxia", "perinatal depression", "perinatal hypoxia", "hypoxic and ischaemic brain injury in the newborn", "hypoxic and ischemic brain injury in the newborn", "neonatal hypoxic and ischaemic brain injury", "neonatal hypoxic and ischemic brain injury" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process." }, "child_count": 0, "reference_id": "MONDO:0006663" }, { "id": 9650, "label": "pulmonary nodular lymphoid hyperplasia", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016663", "MEDGEN:401226", "OMIM:178610", "Orphanet:60026", "SCTID:718097008", "UMLS:C1867419" ], "synonyms": [ "pulmonary pseudolymphoma", "pulmonary nodular lymphoid hyperplasia, familial" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung." }, "child_count": 0, "reference_id": "MONDO:0008348" }, { "id": 9873, "label": "tracheobronchopathia osteochondroplastica", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005235", "MEDGEN:854438", "MESH:C536977", "OMIM:189961", "Orphanet:3348", "SCTID:54675009", "UMLS:C3887588", "icd11.foundation:1797446244" ], "synonyms": [ "tracheobronchopathia osteochondroplastica", "tracheopathia osteoplastica", "cartilaginous or bony projections into the tracheobronchial lumen", "tracheobronchopathia osteoplastica" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi." }, "child_count": 0, "reference_id": "MONDO:0008587" }, { "id": 10153, "label": "Williams-Campbell syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021731", "ICD9:748.3", "MEDGEN:137939", "NANDO:2201040", "OMIM:211450", "Orphanet:411501", "SCTID:54203008", "UMLS:C0340231", "icd11.foundation:766574679" ], "synonyms": [ "Williams-Campbell syndrome", "BRONCHOMALACIA" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008888" }, { "id": 10312, "label": "cystic fibrosis", "isLeaf": false, "isRoot": false, "parents": [ 6815, 7611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1485", "GARD:0006233", "ICD10CM:E84", "ICD10WHO:E84", "ICD9:277.0", "MEDGEN:41393", "MESH:D003550", "MedDRA:10011762", "NANDO:1200922", "NANDO:1201021", "NANDO:2100035", "NANDO:2200205", "NCIT:C2975", "NORD:1026", "OMIM:219700", "Orphanet:586", "SCTID:190905008", "UMLS:C0010674", "icd11.foundation:514403112" ], "synonyms": [ "CF", "cystic fibrosis", "cystic fibrosis lung disease, modifier of", "mucoviscidosis", "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis", "fibrocystic disease of the pancreas" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations." }, "child_count": 2, "reference_id": "MONDO:0009061" }, { "id": 10594, "label": "growth delay-hydrocephaly-lung hypoplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002427", "MEDGEN:344639", "MESH:C535406", "OMIM:236640", "Orphanet:3035", "SCTID:716198008", "UMLS:C1856052" ], "synonyms": [ "game-Friedman-Paradice syndrome", "game Friedman Paradice syndrome", "hydrocephalus with associated malformations", "retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." }, "child_count": 0, "reference_id": "MONDO:0009362" }, { "id": 10737, "label": "laryngo-onycho-cutaneous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6815, 17889 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000368", "MEDGEN:272227", "MESH:C537032", "OMIM:245660", "Orphanet:2407", "SCTID:722675000", "UMLS:C1328355" ], "synonyms": [ "LOC syndrome", "Shabbir syndrome", "laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome", "laryngo-onycho-cutaneous syndrome", "logic syndrome", "LARYNGOONYCHOCUTANEOUS syndrome", "LOCS" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." }, "child_count": 0, "reference_id": "MONDO:0009513" }, { "id": 11135, "label": "congenital pulmonary lymphangiectasia", "isLeaf": true, "isRoot": false, "parents": [ 6815, 8284, 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009900", "MEDGEN:340355", "MESH:C537727", "NCIT:C99034", "NORD:1054", "OMIM:265300", "Orphanet:2414", "SCTID:45142002", "UMLS:C1849554", "icd11.foundation:2069435755" ], "synonyms": [ "Diffuse Pulmonary Lymphangiomatosis", "congenital pulmonary lymphangiectasis", "pulmonary lymphangiomatosis", "CPL", "lymphangiectasia pulmonary congenital", "lymphangiectasia, pulmonary, congenital", "lymphangiomatosis pulmonary", "lymphangiomatosis, pulmonary", "pulmonary cystic lymphangiectasis" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." }, "child_count": 0, "reference_id": "MONDO:0009933" }, { "id": 11138, "label": "familial primary pulmonary hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 6815, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016591", "ICD9:748.5", "MEDGEN:141589", "OMIM:265430", "Orphanet:2257", "SCTID:277656005", "UMLS:C0456891", "icd11.foundation:1778475393" ], "synonyms": [ "lung agenesis", "primary pulmonary hypoplasia", "pulmonary hypoplasia, primary" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life." }, "child_count": 0, "reference_id": "MONDO:0009936" }, { "id": 11330, "label": "Mounier-Kuhn syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003793", "ICD9:748.3", "MEDGEN:11871", "MESH:D014137", "MedDRA:10044316", "NCIT:C85196", "OMIM:275300", "Orphanet:3347", "SCTID:57451009", "UMLS:C0040587" ], "synonyms": [ "Mounier-Kuhn syndrome", "congenital tracheobronchomegaly", "idiopathic tracheobronchomegaly", "tracheobronchomegaly", "Mounier Kuhn syndrome", "Mounier-Kühn syndrome" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections." }, "child_count": 0, "reference_id": "MONDO:0010148" }, { "id": 11398, "label": "Young syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061226", "GARD:0000341", "ICD9:759.89", "MEDGEN:137934", "MESH:C536718", "MedDRA:10063689", "OMIM:279000", "Orphanet:3471", "SCTID:233666007", "UMLS:C0340037", "icd11.foundation:1628320490" ], "synonyms": [ "azoospermia-sinopulmonary infections syndrome", "young syndrome", "Barry Perkins Young syndrome", "Barry-Perkins-Young syndrome", "azoospermia obstructive and chronic sinopulmonary infections", "azoospermia, obstructive, and chronic sinopulmonary infections", "sinusitis-infertility syndrome" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections." }, "child_count": 0, "reference_id": "MONDO:0010220" }, { "id": 12240, "label": "lung agenesis-heart defect-thumb anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6815, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003378", "MEDGEN:477585", "MESH:C535708", "OMIM:601612", "Orphanet:1120", "SCTID:721976003", "UMLS:C3275954" ], "synonyms": [ "Mardini-Nyhan syndrome", "LACHT", "Manouvrier syndrome", "Mardini-Nyhan association", "lung agenesis heart defect thumb anomalies", "lung agenesis, congenital heart defects, and thumb anomalies syndrome", "pulmonary aplasia and triphalangia of the thumb" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." }, "child_count": 0, "reference_id": "MONDO:0011116" }, { "id": 13190, "label": "sudden infant death-dysgenesis of the testes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6815, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012382", "MEDGEN:332428", "MESH:C563856", "OMIM:608800", "Orphanet:168593", "UMLS:C1837371" ], "synonyms": [ "SIDDT", "sudden infant death - dysgenesis of the testes", "sudden infant death with dysgenesis of the testes syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." }, "child_count": 0, "reference_id": "MONDO:0012124" }, { "id": 14317, "label": "alpha 1-antitrypsin deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4370, 4388, 6815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13372", "GARD:0005784", "ICD10CM:E88.01", "ICD9:273.4", "MEDGEN:67461", "MESH:D019896", "MedDRA:10001806", "NANDO:1200755", "NANDO:2100174", "NANDO:2200611", "NCIT:C84397", "NORD:754", "OMIM:613490", "Orphanet:60", "SCTID:30188007", "UMLS:C0221757", "icd11.foundation:824872160" ], "synonyms": [ "A-1ATD", "A1AD", "AAT deficiency", "Alpha-1 Antitrypsin Deficiency", "alpha 1-antitrypsin deficiency", "deficiency in Alpa-1-proteinase inhibitor", "emphysema due to AAT deficiency", "emphysema-cirrhosis, due to AAT deficiency", "hemorrhagic diathesis due to antithrombin pittsburgh", "A1AT deficiency", "A1ATD", "AATD", "ALPHA-1-antitrypsin deficiency", "Alpha 1 antitrypsin deficiency", "Alpha-1 antitrypsin deficiency", "alpha-1-antitrypsin deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." }, "child_count": 0, "reference_id": "MONDO:0013282" }, { "id": 15314, "label": "hereditary sclerosing poikiloderma with tendon and pulmonary involvement", "isLeaf": true, "isRoot": false, "parents": [ 6815, 16913, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013218", "MEDGEN:816655", "OMIM:615704", "Orphanet:221043", "UMLS:C3810325", "icd11.foundation:1585528459" ], "synonyms": [ "POIKTMP syndrome", "POIKTMP", "hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis", "hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome", "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis", "poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." }, "child_count": 0, "reference_id": "MONDO:0014310" }, { "id": 15625, "label": "autoimmune interstitial lung disease-arthritis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6815, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081242", "GARD:0017762", "NORD:1973", "OMIMPS:616414", "Orphanet:444092" ], "synonyms": [ "COPA Syndrome", "autoinflammation and autoimmunity, systemic, with immune dysregulation", "AILJK", "autoimmune interstitial lung, joint, and kidney disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." }, "child_count": 6, "reference_id": "MONDO:0014629" }, { "id": 15988, "label": "mucopolysaccharidosis-plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6815, 16087, 16198, 24093, 24806 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017944", "MEDGEN:934594", "OMIM:617303", "Orphanet:505248", "SCTID:1187113001", "UMLS:C4310627" ], "synonyms": [ "MPSPS", "mucopolysaccharidosis-like plus disease", "mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders", "mucopolysaccharidosis-plus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015012" }, { "id": 16709, "label": "congenital bronchobiliary fistula", "isLeaf": true, "isRoot": false, "parents": [ 6815, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001475", "MEDGEN:930385", "Orphanet:2040", "SCTID:719452004", "UMLS:C4304716", "icd11.foundation:420429663" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A rare congenital respiratory disorder characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus." }, "child_count": 0, "reference_id": "MONDO:0016080" }, { "id": 17021, "label": "bronchogenic cyst", "isLeaf": true, "isRoot": false, "parents": [ 6815, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001025", "HP:0100730", "MEDGEN:668", "MESH:D001994", "MedDRA:10064585", "Orphanet:2357", "UMLS:C0006281", "icd11.foundation:355400995" ], "synonyms": [ "bronchogenic cyst", "bronchogenic cyst (disease)" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum." }, "child_count": 0, "reference_id": "MONDO:0016523" }, { "id": 17068, "label": "primary ciliary dyskinesia", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6815, 7000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050144", "DOID:9562", "GARD:0004484", "MEDGEN:3467", "MESH:D002925", "MESH:D007619", "MedDRA:10069713", "NANDO:2100034", "NANDO:2200203", "NANDO:2200204", "NCIT:C84797", "NORD:1605", "OMIMPS:244400", "Orphanet:244", "SCTID:42402006", "SCTID:86204009", "UMLS:C0008780", "icd11.foundation:1713839459" ], "synonyms": [ "Kartagener syndrome", "Kartagener's syndrome", "PCD", "Dextrocardia bronchiectasis and sinusitis", "Dextrocardia-bronchiectasis-sinusitis syndrome", "ICS", "Immotile cilia syndrome, Kartagener type", "Primary ciliary dyskinesia and situs inversus", "Primary ciliary dyskinesia, Kartagener type", "Siewert syndrome", "bronchiectasis, chronic sinusitis and dextrocardia syndrome", "ciliary dyskinesia primary" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)." }, "child_count": 177, "reference_id": "MONDO:0016575" }, { "id": 17071, "label": "congenital pulmonary airway malformation", "isLeaf": false, "isRoot": false, "parents": [ 6815, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018772", "MEDGEN:8225", "MESH:D015615", "NCIT:C98892", "Orphanet:2444", "SCTID:111318005", "UMLS:C0010668", "icd11.foundation:2091138945" ], "synonyms": [ "CCAM", "CPAM", "congenital cystic adenomatoid malformation of lung", "congenital cystic adenomatoid malformation of the lung", "congenital cystic adenomatous malformation of the lung", "congenital cystic disease of the lung", "congenital cystic adenomatoid malformation", "cystic adenomatoid malformation of lung" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size." }, "child_count": 10, "reference_id": "MONDO:0016580" }, { "id": 17674, "label": "transient hyperammonemia of the newborn", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021159", "MEDGEN:541358", "Orphanet:289877", "UMLS:C0268549" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017357" }, { "id": 18060, "label": "congenital pulmonary sequestration", "isLeaf": false, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004593", "MEDGEN:892881", "MESH:D001998", "NCIT:C97124", "Orphanet:3161", "SCTID:18620009", "UMLS:C4020703", "icd11.foundation:1833083626" ], "synonyms": [ "bronchopulmonary sequestration", "congenital bronchopulmonary sequestration", "congenital sequestration of lung", "pulmonary sequestration", "sequestered lobe (pulmonary sequestration)" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation." }, "child_count": 3, "reference_id": "MONDO:0017843" }, { "id": 18065, "label": "Siegler-Brewer-Carey syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004867", "MEDGEN:419088", "MESH:C537335", "Orphanet:3167", "SCTID:721076000", "UMLS:C2931473" ], "synonyms": [ "Siegler Brewer Carey syndrome", "fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed." }, "child_count": 0, "reference_id": "MONDO:0017849" }, { "id": 18221, "label": "tracheal agenesis", "isLeaf": true, "isRoot": false, "parents": [ 6815, 20383, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005233", "MEDGEN:266059", "MESH:C536975", "NCIT:C35376", "Orphanet:3346", "SCTID:3987009", "UMLS:C1261567" ], "synonyms": [ "congenital absence of trachea", "tracheal absence", "congenital tracheal agenesis" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking." }, "child_count": 0, "reference_id": "MONDO:0018058" }, { "id": 18277, "label": "16q24.1 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6815, 17333 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021523", "MEDGEN:1653385", "Orphanet:352629", "UMLS:C4749464" ], "synonyms": [ "Del(16)(q24.1)", "monosomy 16q24.1" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects)." }, "child_count": 0, "reference_id": "MONDO:0018127" }, { "id": 18325, "label": "staphylococcal necrotizing pneumonia", "isLeaf": true, "isRoot": false, "parents": [ 6815, 17872 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018821", "MEDGEN:1637863", "Orphanet:36238", "SCTID:763888005", "UMLS:C4706659" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated." }, "child_count": 0, "reference_id": "MONDO:0018183" }, { "id": 18568, "label": "pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis", "isLeaf": true, "isRoot": false, "parents": [ 6815, 16614 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009199", "GARD:0021801", "MEDGEN:785618", "NANDO:1200426", "NANDO:1200428", "Orphanet:431353", "UMLS:C3698354" ], "synonyms": [ "PVOD and/or PCH" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction." }, "child_count": 0, "reference_id": "MONDO:0018554" }, { "id": 18600, "label": "plastic bronchitis", "isLeaf": true, "isRoot": false, "parents": [ 6815, 7447 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021835", "MEDGEN:538495", "Orphanet:439881", "SCTID:53926002", "UMLS:C0264342" ], "synonyms": [ "croupous bronchitis", "fibrinous bronchitis", "pseudo-membranous bronchitis" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe." }, "child_count": 0, "reference_id": "MONDO:0018597" }, { "id": 18877, "label": "recurrent respiratory papillomatosis", "isLeaf": false, "isRoot": false, "parents": [ 6815, 7231, 20338, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000111", "ICD9:078.19", "MEDGEN:216998", "MESH:C535297", "MedDRA:10059314", "NCIT:C128637", "NORD:1651", "Orphanet:60032", "SCTID:472827002", "UMLS:C1168198", "icd11.foundation:151039887" ], "synonyms": [ "RRP", "recurrent respiratory papillomatosis", "AORRP (type)", "JORRP (type)", "adult-onset recurrent respiratory papillomatosis (type)", "juvenile laryngeal papilloma", "juvenile-onset recurrent respiratory papillomatosis (type)", "laryngeal papilloma, recurrent", "respiratory papillomatosis, recurrent" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive." }, "child_count": 4, "reference_id": "MONDO:0018955" }, { "id": 18897, "label": "IgG4-related mediastinitis", "isLeaf": true, "isRoot": false, "parents": [ 6815, 17611 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008337", "MEDGEN:82683", "MESH:C536136", "MedDRA:10027074", "NORD:1146", "Orphanet:63999", "UMLS:C0264573", "icd11.foundation:123840075", "icd11.foundation:791747341" ], "synonyms": [ "Fibrosing Mediastinitis", "fibrosing mediastinitis", "mediastinal fibrosis", "sclerosing mediastinitis", "idiopathic mediastinal fibrosis" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018978" }, { "id": 18980, "label": "bronchopulmonary dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 6815, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11650", "GARD:0005962", "MEDGEN:1864458", "MESH:D001997", "MedDRA:10006475", "NCIT:C90599", "NORD:874", "Orphanet:70589", "SCTID:67569000", "UMLS:C0495402", "icd11.foundation:1462855296" ], "synonyms": [ "BPD" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." }, "child_count": 0, "reference_id": "MONDO:0019091" }, { "id": 18981, "label": "infantile apnea", "isLeaf": false, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006779", "MEDGEN:1378556", "Orphanet:70590", "SCTID:724229002", "UMLS:C0745261" ], "synonyms": [ "apnea of infancy" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea." }, "child_count": 1, "reference_id": "MONDO:0019092" }, { "id": 19349, "label": "diffuse alveolar hemorrhage", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019110", "HP:0025420", "MEDGEN:1381751", "Orphanet:90060", "UMLS:C4476767" ], "synonyms": [ "diffuse alveolar haemorrhage (disease)", "diffuse alveolar hemorrhage", "diffuse alveolar hemorrhage (disease)" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A respiratory disorder characterized by diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis." }, "child_count": 0, "reference_id": "MONDO:0019540" }, { "id": 19706, "label": "respiratory or thoracic malformation", "isLeaf": false, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1842800", "Orphanet:97957", "UMLS:C5681559" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0020001" }, { "id": 19737, "label": "pulmonary agenesis", "isLeaf": true, "isRoot": false, "parents": [ 6815, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009119", "ICD10CM:Q33.3", "ICD9:748.5", "MEDGEN:82722", "MESH:C562992", "MedDRA:10037322", "NCIT:C99028", "Orphanet:984", "SCTID:66489009", "UMLS:C0265780", "icd11.foundation:134836096" ], "synonyms": [ "congenital absence of lung", "congenital lung agenesis", "unilateral lobar pulmonary agenesis", "unilateral lung agenesis" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities." }, "child_count": 0, "reference_id": "MONDO:0020110" }, { "id": 19966, "label": "eosinophilic granuloma", "isLeaf": false, "isRoot": false, "parents": [ 6815, 18407 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025166", "ICD9:277.89", "ICDO:9752/1", "MEDGEN:4979", "MESH:D004803", "MedDRA:10014956", "NCIT:C3016", "Orphanet:99871", "SCTID:129000002", "UMLS:C0014461", "icd11.foundation:1377407737" ], "synonyms": [ "Monostotic Langerhans cell histiocytosis", "chronic and localised Langerhans cell histiocytosis", "chronic and localized Langerhans cell histiocytosis", "chronic unifocal Langerhans cell histiocytosis", "eosinophilic granuloma", "eosinophilic xanthomatous granuloma", "unifocal Langerhans cell histiocytosis" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes." }, "child_count": 2, "reference_id": "MONDO:0020517" }, { "id": 20028, "label": "disorder of pharynx", "isLeaf": false, "isRoot": false, "parents": [ 6815, 21538 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:10691", "NCIT:C26850", "SCTID:75860007", "UMLS:C0031345" ], "synonyms": [ "chordate pharynx disease", "chordate pharynx disease or disorder", "disease of chordate pharynx", "disease or disorder of chordate pharynx", "disorder of chordate pharynx", "pharyngeal disease", "pharyngeal disorder" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma." }, "child_count": 20, "reference_id": "MONDO:0020592" }, { "id": 20056, "label": "respiratory tract neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6798, 6815 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003853", "ICD10CM:C30-C39", "MEDGEN:11200", "MESH:D012142", "NCIT:C3355", "SCTID:126667002", "UMLS:C0035244" ], "synonyms": [ "neoplasm of respiratory tract", "neoplasm of the respiratory tract", "neoplasm, respiratory tract", "neoplasms, respiratory tract", "respiratory system neoplasm", "respiratory tract neoplasm", "respiratory tract tumor", "respiratory tract tumour", "tract neoplasm, respiratory", "tract neoplasms, respiratory", "tumor of respiratory tract", "tumor of the respiratory tract", "tumour of respiratory tract", "tumour of the respiratory tract" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A benign or malignant, primary or metastatic neoplasm involving the respiratory tract." }, "child_count": 16, "reference_id": "MONDO:0020641" }, { "id": 20223, "label": "pulmonary alveolar proteinosis with hypogammaglobulinemia", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061070", "GARD:0022313", "MEDGEN:1648298", "MEDGEN:1810375", "OMIM:618042", "Orphanet:572428", "UMLS:C4747984", "UMLS:C5680364" ], "synonyms": [ "OAS1 deficiency", "OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia", "PAPHG", "immunodeficiency (due to OAS1 gain-of-function variant) with pulmonary alveolar proteinosis and hypogammaglobulinemia", "infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia", "pulmonary alveolar proteinosis with hypogammaglobulinemia" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes." }, "child_count": 0, "reference_id": "MONDO:0020840" }, { "id": 21378, "label": "respiratory tract infectious disorder", "isLeaf": false, "isRoot": false, "parents": [ 6815, 7200 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:519.8", "MESH:D012141", "SCTID:275498002" ], "synonyms": [ "respiratory infection, upper", "upper respiratory infections", "upper respiratory tract infections", "infection, respiratory tract", "infections, respiratory", "infections, respiratory tract", "infections, upper respiratory", "infections, upper respiratory tract", "respiratory infections", "respiratory tract infection" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." }, "child_count": 28, "reference_id": "MONDO:0024355" }, { "id": 23866, "label": "Middle East respiratory syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6815, 20156 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080642", "GARD:0022321", "MEDGEN:811327", "NCIT:C128424", "Orphanet:576074", "UMLS:C3694279", "icd11.foundation:1840423014" ], "synonyms": [ "MERS", "camel flu" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome." }, "child_count": 0, "reference_id": "MONDO:0100116" }, { "id": 24196, "label": "reactive airway disease", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:811342", "NCIT:C113673", "SCTID:991000119106", "UMLS:C3714497" ], "synonyms": [ "hyperactive airway disease", "reactive airway disease (AQ)" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants." }, "child_count": 0, "reference_id": "MONDO:0100470" }, { "id": 24387, "label": "acinar dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026297", "MEDGEN:835348", "UMLS:C3872820", "icd11.foundation:1890124170" ], "synonyms": [ "AcDys" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4." }, "child_count": 3, "reference_id": "MONDO:0600016" }, { "id": 24839, "label": "pulmonary hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026450", "MEDGEN:78574", "NCIT:C99035", "UMLS:C0265783" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements." }, "child_count": 0, "reference_id": "MONDO:0800133" }, { "id": 25909, "label": "isolated left bronchial isomerism", "isLeaf": true, "isRoot": false, "parents": [ 6815 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026998", "MEDGEN:1853146", "Orphanet:649029", "UMLS:C5816741" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0958269" }, { "id": 26125, "label": "bronchiectasis and nasal polyposis", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6815 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1874999", "OMIM:620984", "UMLS:C5975469" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975835" } ], "roots": [ { "id": 29379, "label": "disease by body system or component" } ] }