{ "id": 21538, "label": "otorhinolaryngologic disease", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0024623", "properties": { "xrefs": [ "ICD9:478.19", "MEDGEN:583054", "MESH:D010038", "NANDO:1100015", "NCIT:C118420", "SCTID:232208008", "UMLS:C0395797" ], "synonyms": [ "ear, nose and throat disorder", "ear, nose or throat disorder", "ear/nose/throat disease", "otolaryngologic disorder", "otorhinolaryngologic disease", "ENT disease", "ENT diseases", "disease, ENT", "disease, otolaryngologic", "disease, otolaryngological", "disease, otorhinolaryngologic", "disease, otorhinolaryngological", "diseases, ENT", "diseases, otolaryngologic", "diseases, otolaryngological", "diseases, otorhinolaryngologic", "diseases, otorhinolaryngological", "otolaryngologic disease", "otolaryngologic diseases", "otolaryngological disease", "otolaryngological diseases", "otorhinolaryngological disease", "otorhinolaryngological diseases" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." }, "isLeaf": false, "isRoot": false, "child_count": 40, "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": 2727, "label": "bifid nose", "isLeaf": false, "isRoot": false, "parents": [ 16263, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000884", "MEDGEN:66379", "MESH:C535441", "Orphanet:2695", "UMLS:C0221363", "icd11.foundation:1824850646" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." }, "child_count": 6, "reference_id": "MONDO:0000110" }, { "id": 3003, "label": "autoimmune disease of ear, nose and throat", "isLeaf": false, "isRoot": false, "parents": [ 8586, 21538 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060030" ], "synonyms": [ "autoimmune otorhinolaryngologic disease", "autoimmune disease of eyes, ear, nose and throat" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "An autoimmune form of otorhinolaryngologic disease." }, "child_count": 14, "reference_id": "MONDO:0000587" }, { "id": 4522, "label": "nasal disorder", "isLeaf": false, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2825", "ICD9:478.19", "MEDGEN:10385", "MESH:D009668", "SCTID:89488007", "UMLS:C0028432" ], "synonyms": [ "disease of nose", "disease or disorder of nose", "disorder of nose", "nose disease", "nose disease or disorder" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A disease involving the nose." }, "child_count": 5, "reference_id": "MONDO:0002436" }, { "id": 8577, "label": "atresia of external auditory canal and conductive deafness", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018274", "MEDGEN:502760", "OMIM:108760", "UMLS:C3502361" ], "synonyms": [ "atresia of external auditory canal and conductive deafness" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007170" }, { "id": 8959, "label": "external auditory canal atresia-vertical talus-hypertelorism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18362, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004638", "MEDGEN:361813", "OMIM:133705", "Orphanet:3023", "UMLS:C1876181" ], "synonyms": [ "Rasmussen-Johnsen-Thomsen syndrome", "Rasmussen Johnsen Thomsen syndrome", "Rasmussen syndrome", "external auditory canal, bilateral atresia of, with congenital vertical talus", "inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007587" }, { "id": 9212, "label": "laryngeal abductor paralysis", "isLeaf": true, "isRoot": false, "parents": [ 6195, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005509", "ICD9:748.3", "MEDGEN:96004", "OMIM:150260", "Orphanet:2808", "SCTID:232442001", "UMLS:C0396059", "icd11.foundation:965049946" ], "synonyms": [ "Gerhardt syndrome", "familial vocal cord dysfunction", "laryngeal abductor paralysis", "Labd", "vocal cord dysfunction familial", "vocal cord dysfunction, familial" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007876" }, { "id": 9215, "label": "larynx atresia", "isLeaf": true, "isRoot": false, "parents": [ 6195, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003194", "ICD9:748.3", "MEDGEN:78572", "MESH:C563637", "NANDO:2200190", "NCIT:C98972", "OMIM:150300", "Orphanet:1202", "SCTID:64981002", "UMLS:C0265756" ], "synonyms": [ "congenital atresia of larynx", "congenital atresia of the larynx", "laryngeal atresia", "congenital partial atresia of the larynx", "larynx, congenital partial atresia OF" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation." }, "child_count": 0, "reference_id": "MONDO:0007879" }, { "id": 9491, "label": "congenital velopharyngeal incompetence", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005470", "MEDGEN:52992", "MESH:D014681", "OMIM:167500", "Orphanet:2291", "UMLS:C0042454", "icd11.foundation:158386351" ], "synonyms": [ "palatopharyngeal incompetence", "velopharyngeal incompetence", "velopharyngeal insufficiency" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech." }, "child_count": 0, "reference_id": "MONDO:0008180" }, { "id": 12053, "label": "microtia", "isLeaf": false, "isRoot": false, "parents": [ 19507, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000431", "ICD10CM:Q17.2", "ICD9:744.23", "MEDGEN:322201", "MESH:C537772", "MESH:D065817", "MedDRA:10027555", "OMIM:600674", "Orphanet:83463", "SCTID:35045004", "UMLS:C1833486", "icd11.foundation:2005415414" ], "synonyms": [ "M-A", "congenital microtias", "microtia, congenital", "microtia-anotia", "microtias, congenital", "anotia" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal." }, "child_count": 2, "reference_id": "MONDO:0010920" }, { "id": 12450, "label": "congenital tracheal stenosis", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012008", "ICD9:748.3", "MEDGEN:120556", "MESH:C566362", "NANDO:1201003", "OMIM:603569", "Orphanet:141127", "SCTID:9660004", "UMLS:C0265767", "icd11.foundation:2095672409" ], "synonyms": [ "tracheobronchial stenosis, congenital" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011340" }, { "id": 16044, "label": "laryngeal neuroendocrine neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 7231, 19314, 20312, 21538 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5457", "GARD:0019758", "MEDGEN:232692", "NCIT:C6023", "Orphanet:100083", "SCTID:707625001", "UMLS:C1334374", "icd11.foundation:1502591214" ], "synonyms": [ "laryngeal neuroendocrine neoplasm", "larynx NET", "larynx neuroendocrine neoplasm", "larynx neuroendocrine tumor", "larynx neuroendocrine tumor, well differentiated, low or intermediate grade", "larynx neuroendocrine tumour", "neuroendocrine neoplasm of larynx", "neuroendocrine neoplasm of the larynx", "laryngeal neuroendocrine tumor", "laryngeal neuroendocrine tumour" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma." }, "child_count": 4, "reference_id": "MONDO:0015070" }, { "id": 16128, "label": "arrhinia", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000364", "ICD9:748.1", "MEDGEN:120555", "MESH:C537438", "Orphanet:1134", "SCTID:111317000", "UMLS:C0265740", "icd11.foundation:409489963" ], "synonyms": [ "Nose agenesis", "isolated nose agenesis", "Nose agenesia", "congenital absence of the nose", "isolated arrhinia" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia." }, "child_count": 0, "reference_id": "MONDO:0015237" }, { "id": 16194, "label": "laryngotracheal angioma", "isLeaf": true, "isRoot": false, "parents": [ 7231, 16805, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019893", "ICD9:228.09", "MEDGEN:825419", "NCIT:C99086", "Orphanet:137935", "SCTID:703199001", "UMLS:C3839574" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0015317" }, { "id": 16239, "label": "epignathus", "isLeaf": true, "isRoot": false, "parents": [ 7231, 19318, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019943", "HP:0030767", "MEDGEN:540117", "Orphanet:141077", "SCTID:31248004", "UMLS:C0266725", "icd11.foundation:7319064" ], "synonyms": [ "Epignathus", "epignathus (disease)", "oropharyngeal teratoma" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period." }, "child_count": 0, "reference_id": "MONDO:0015386" }, { "id": 16240, "label": "nasolacrimal duct cyst", "isLeaf": true, "isRoot": false, "parents": [ 21538, 23493 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019944", "MEDGEN:1810477", "Orphanet:141083", "UMLS:C5575612" ], "synonyms": [ "dacryocele", "nasolacrimal mucocele", "dacryocystocele" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females." }, "child_count": 0, "reference_id": "MONDO:0015387" }, { "id": 16241, "label": "polyrrhinia", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019945", "MEDGEN:894825", "Orphanet:141091", "SCTID:716279002", "UMLS:C4274730", "icd11.foundation:142812177" ], "synonyms": [ "Double nose", "Polyrhinia" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair." }, "child_count": 0, "reference_id": "MONDO:0015388" }, { "id": 16242, "label": "supernumerary nostril", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019946", "HP:0009934", "MEDGEN:867014", "Orphanet:141096", "SCTID:719163006", "UMLS:C4021372", "icd11.foundation:306735786" ], "synonyms": [ "accessory nostril", "supernumerary naris" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face." }, "child_count": 0, "reference_id": "MONDO:0015389" }, { "id": 16243, "label": "proboscis lateralis", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019947", "MEDGEN:900031", "Orphanet:141099", "SCTID:715828006", "UMLS:C4274985", "icd11.foundation:646148612" ], "synonyms": [ "congenital tubular nose" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly." }, "child_count": 0, "reference_id": "MONDO:0015390" }, { "id": 16245, "label": "nasal glial heterotopia", "isLeaf": true, "isRoot": false, "parents": [ 7231, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019949", "ICD9:748.1", "MEDGEN:539951", "Orphanet:141112", "SCTID:5645008", "UMLS:C0266490", "icd11.foundation:1449384774" ], "synonyms": [ "nasal glioma" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported." }, "child_count": 0, "reference_id": "MONDO:0015392" }, { "id": 16246, "label": "nasal ganglioglioma", "isLeaf": true, "isRoot": false, "parents": [ 7231, 17185, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019950", "MEDGEN:1786513", "Orphanet:141115", "UMLS:C5548206", "icd11.foundation:40917416" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction." }, "child_count": 0, "reference_id": "MONDO:0015393" }, { "id": 16247, "label": "nasal encephalocele", "isLeaf": true, "isRoot": false, "parents": [ 16690, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019951", "MEDGEN:507680", "Orphanet:141118", "SCTID:65455002", "UMLS:C0014066", "icd11.foundation:884932601" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases." }, "child_count": 0, "reference_id": "MONDO:0015394" }, { "id": 16261, "label": "isolated congenital syngnathia", "isLeaf": true, "isRoot": false, "parents": [ 20383, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019962", "MEDGEN:1635309", "Orphanet:141214", "SCTID:763317002", "UMLS:C4706392" ], "synonyms": [ "isolated congenital maxillomandibular fusion" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis." }, "child_count": 0, "reference_id": "MONDO:0015409" }, { "id": 16314, "label": "cysts and fistulae of the face and oral cavity", "isLeaf": false, "isRoot": false, "parents": [ 19507, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019973", "MEDGEN:1843131", "Orphanet:155835", "UMLS:C5680632" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "An otorhinolaryngologic disease characterized by the abnormal growths or passages in the tissues of the mouth, jaw, and surrounding areas." }, "child_count": 26, "reference_id": "MONDO:0015476" }, { "id": 16376, "label": "isolated congenital nasal pyriform aperture stenosis", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020039", "Orphanet:162516" ], "synonyms": [ "isolated apertura pyriformis stenosis", "isolated nasal pyriform aperture hypoplasia" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0015568" }, { "id": 16377, "label": "congenital nasal pyriform aperture stenosis with holoprosencephaly", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1747766", "Orphanet:162521", "UMLS:C5437790" ], "synonyms": [ "apertura pyriformis with holoprosencephaly" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0015569" }, { "id": 16398, "label": "middle ear anomaly", "isLeaf": false, "isRoot": false, "parents": [ 19507, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020056", "MEDGEN:540027", "MedDRA:10060957", "Orphanet:164004", "UMLS:C0266599" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 6, "reference_id": "MONDO:0015604" }, { "id": 16503, "label": "idiopathic bilateral vestibulopathy", "isLeaf": true, "isRoot": false, "parents": [ 21538, 24405 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020124", "MEDGEN:1622940", "Orphanet:171684", "SCTID:737580004", "UMLS:C4545229", "icd11.foundation:1394072237" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo." }, "child_count": 0, "reference_id": "MONDO:0015743" }, { "id": 16800, "label": "mal de Debarquement", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006959", "MEDGEN:345629", "MESH:C537840", "MedDRA:10064924", "NORD:1394", "Orphanet:210272", "SCTID:446079007", "UMLS:C1608983", "icd11.foundation:459420954" ], "synonyms": [ "MDD", "MdDS", "disembarkment syndrome", "sickness of disembarkment", "Mal de debarquement syndrome", "Mal de débarquement" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train." }, "child_count": 0, "reference_id": "MONDO:0016217" }, { "id": 17657, "label": "juvenile nasopharyngeal angiofibroma", "isLeaf": true, "isRoot": false, "parents": [ 7231, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021144", "HP:0030429", "MEDGEN:237137", "NCIT:C27479", "Orphanet:289596", "SCTID:716590006", "UMLS:C1367536" ], "synonyms": [ "JNA", "juvenile nasopharyngeal angiofibroma", "juvenile nasopharyngeal angiofibroma (disease)", "nasopharyngeal angiofibroma", "nasopharyngeal juvenile angiofibroma" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures." }, "child_count": 0, "reference_id": "MONDO:0017340" }, { "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": 18522, "label": "semicircular canal dehiscence syndrome", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080193", "GARD:0021745", "MEDGEN:1642474", "NORD:1891", "Orphanet:420402", "SCTID:717799003", "UMLS:C4708600" ], "synonyms": [ "Minor's syndrome", "Minorbs syndrome", "SCD syndrome", "Superior Semicircular Canal Dehiscence", "superior semicircular canal dehiscence" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms." }, "child_count": 0, "reference_id": "MONDO:0018484" }, { "id": 18718, "label": "hereditary otorhinolaryngologic disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021935", "MEDGEN:1842579", "Orphanet:466084", "UMLS:C5681130" ], "synonyms": [ "genetic otorhinolaryngologic disease" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome." }, "child_count": 42, "reference_id": "MONDO:0018751" }, { "id": 18723, "label": "supratip dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021941", "MEDGEN:1807664", "Orphanet:466695", "UMLS:C5681127" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected." }, "child_count": 0, "reference_id": "MONDO:0018757" }, { "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": 18993, "label": "silent sinus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018910", "ICD9:478.19", "MEDGEN:785359", "Orphanet:71276", "SCTID:699802009", "UMLS:C3698095", "icd11.foundation:1204931989" ], "synonyms": [ "Imploding antrum syndrome" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Silent sinus syndrome is characterized by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls." }, "child_count": 0, "reference_id": "MONDO:0019108" }, { "id": 19524, "label": "anotia", "isLeaf": true, "isRoot": false, "parents": [ 19507, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016835", "ICD9:744.01", "MEDGEN:152377", "MedDRA:10002654", "Orphanet:93976", "SCTID:57436000", "UMLS:C0702139", "icd11.foundation:2056675356" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." }, "child_count": 0, "reference_id": "MONDO:0019780" }, { "id": 19545, "label": "congenital tracheomalacia", "isLeaf": true, "isRoot": false, "parents": [ 4630, 21538 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060313", "GARD:0010515", "HP:0002779", "ICD9:748.3", "MEDGEN:140261", "MESH:D055090", "MedDRA:10010654", "NANDO:2200195", "NCIT:C98634", "NORD:2028", "Orphanet:95430", "SCTID:95467005", "UMLS:C0392109", "icd11.foundation:1616705280", "icd11.foundation:303133490" ], "synonyms": [ "Congenital Tracheomalacia", "congenital major airway collapse", "congenital tracheomalacia", "tracheomalacia, congenital", "tracheomalacia", "type 1 tracheomalacia" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." }, "child_count": 0, "reference_id": "MONDO:0019804" }, { "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": 20423, "label": "disorder of ear", "isLeaf": false, "isRoot": false, "parents": [ 21538 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:388.8", "ICD9:388.9", "MEDGEN:3946", "NCIT:C26757", "SCTID:25906001", "UMLS:C0013447" ], "synonyms": [ "Ear disease", "Ear disorder", "disease of ear", "disease or disorder of ear", "disorder of ear", "ear disease", "ear disease or disorder" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A disease that involves the ear." }, "child_count": 6, "reference_id": "MONDO:0021205" }, { "id": 23401, "label": "lip and oral cavity squamous cell carcinoma", "isLeaf": false, "isRoot": false, "parents": [ 11332, 21254, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022046", "MEDGEN:124714", "NCIT:C42690", "Orphanet:502369", "UMLS:C0280297" ], "synonyms": [ "lip and oral cavity squamous cell cancer", "lip and oral cavity squamous cell carcinoma", "lip/oral cavity squam. cell car.", "squamous cell carcinoma of oral cavity and lip" ], "categories": [ { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes." }, "child_count": 3, "reference_id": "MONDO:0044710" } ], "roots": [ { "id": 29379, "label": "disease by body system or component" } ] }