{
  "id": 18718,
  "label": "hereditary otorhinolaryngologic disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018751",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 21,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 21538,
      "label": "otorhinolaryngologic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 40,
      "reference_id": "MONDO:0024623"
    }
  ],
  "children": [
    {
      "id": 7034,
      "label": "otosclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4547,
        18718,
        22991
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12185",
          "EFO:0004213",
          "GARD:0027719",
          "HP:0000362",
          "ICD10CM:H80",
          "ICD10WHO:H80",
          "ICD9:387",
          "ICD9:387.8",
          "ICD9:387.9",
          "MEDGEN:10508",
          "MESH:D010040",
          "NCIT:C185242",
          "OMIMPS:166800",
          "Orphanet:2794",
          "SCTID:11543004",
          "UMLS:C0029899",
          "icd11.foundation:1242649410"
        ],
        "synonyms": [
          "otosclerosis",
          "otosclerosis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs."
      },
      "child_count": 33,
      "reference_id": "MONDO:0005349"
    },
    {
      "id": 8549,
      "label": "isolated congenital anosmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11684,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009486",
          "MEDGEN:95992",
          "MESH:C535983",
          "OMIM:107200",
          "Orphanet:88620",
          "SCTID:230502003",
          "UMLS:C0393778",
          "icd11.foundation:1603572540"
        ],
        "synonyms": [
          "ANIC",
          "anosmia, congenital",
          "anosmia, isolated congenital",
          "congenital anosmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007137"
    },
    {
      "id": 8638,
      "label": "second branchial cleft anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16314,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016968",
          "MEDGEN:840602",
          "NCIT:C104813",
          "OMIM:113600",
          "Orphanet:141022",
          "SCTID:73381000119100",
          "UMLS:C3874315"
        ],
        "synonyms": [
          "branchial cleft",
          "branchial cleft remnant",
          "second branchial cleft cyst",
          "second branchial cleft fistula",
          "branchial cleft anomalies",
          "branchial cysts"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007233"
    },
    {
      "id": 9207,
      "label": "familial congenital nasolacrimal duct obstruction",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017784",
          "MEDGEN:332018",
          "MESH:C566703",
          "OMIM:149700",
          "Orphanet:451612",
          "UMLS:C1835612"
        ],
        "synonyms": [
          "LCDD",
          "lacrimal duct defect",
          "lacrimal puncta, absence of",
          "nasolacrimal duct obstruction"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007871"
    },
    {
      "id": 9300,
      "label": "Meniere disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8201,
        18718,
        22991,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9849",
          "EFO:0006862",
          "ICD9:386.0",
          "ICD9:386.00",
          "MEDGEN:7530",
          "MESH:D008575",
          "NCIT:C185243",
          "OMIM:156000",
          "Orphanet:45360",
          "SCTID:13445001",
          "UMLS:C0025281",
          "icd11.foundation:683932278"
        ],
        "synonyms": [
          "Meniere disease",
          "Meniere's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops."
      },
      "child_count": 12,
      "reference_id": "MONDO:0007972"
    },
    {
      "id": 9341,
      "label": "motion sickness",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4547,
        18718,
        22991
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2951",
          "ICD10CM:T75.3",
          "ICD9:994.6",
          "MEDGEN:44503",
          "MESH:D009041",
          "OMIM:158280",
          "UMLS:C0026603",
          "icd11.foundation:1078108554"
        ],
        "synonyms": [
          "motion sickness",
          "travel sickness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008015"
    },
    {
      "id": 9852,
      "label": "familial thyroglossal duct cyst",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7231,
        7962,
        16048,
        16314,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005204",
          "MEDGEN:501211",
          "MESH:C536909",
          "OMIM:188455",
          "Orphanet:93953",
          "SCTID:717331000",
          "UMLS:C3495590"
        ],
        "synonyms": [
          "hereditary thyroglossal duct cyst",
          "hereditary thyroglossal duct cysts",
          "thyroglossal duct cyst, familial",
          "thyroglossal duct cysts",
          "thyroglossal duct cysts familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008565"
    },
    {
      "id": 10131,
      "label": "bifid nose, autosomal recessive",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2727,
        7611,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015142",
          "MEDGEN:854359",
          "OMIM:210400",
          "UMLS:C3887497"
        ],
        "synonyms": [
          "autosomal recessive bifid nose",
          "bifid nose, autosomal recessive",
          "Nose, Median cleft of",
          "median fissure of Nose"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Autosomal recessive form of bifid nose."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008866"
    },
    {
      "id": 11730,
      "label": "X-linked mixed hearing loss with perilymphatic gusher",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4547,
        16853,
        18718,
        19391
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111737",
          "GARD:0004504",
          "ICD9:389.1",
          "ICD9:389.10",
          "ICD9:389.14",
          "MEDGEN:336750",
          "MedDRA:10040016",
          "OMIM:304400",
          "Orphanet:383",
          "UMLS:C1844678"
        ],
        "synonyms": [
          "central hearing loss",
          "high frequency deafness",
          "high frequency hearing loss",
          "high-frequency hearing loss",
          "perceptive deafness",
          "perceptive hearing loss",
          "perceptive hearing loss or deafness",
          "sensorineural deafness",
          "sensorineural hearing loss",
          "sensory hearing loss",
          "DFNX2",
          "X-linked mixed hearing loss with perilymphatic gusher",
          "Nance deafness",
          "X-linked deafness type 2",
          "X-linked mixed conductive and neurosensory deafness",
          "X-linked mixed conductive and sensorineural deafness",
          "X-linked mixed deafness with perilymphatic gusher",
          "conductive deafness with stapes fixation",
          "deafness mixed with perilymphatic gusher, X-linked",
          "deafness, X-linked 2, X-linked recessive",
          "deafness, X-linked type 2",
          "DFN 3 nonsyndromic hearing loss and deafness",
          "DFN3",
          "deafness 3 conductive with stapes fixation",
          "deafness 3, conductive, with stapes fixation",
          "deafness conductive with stapes fixation",
          "deafness mixed with perilymphatic gusher",
          "deafness, X-linked 2",
          "deafness, conductive, with stapes fixation",
          "deafness, mixed, with perilymphatic gusher",
          "gusher syndrome",
          "perilymphatic gusher-deafness syndrome",
          "sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010576"
    },
    {
      "id": 12054,
      "label": "nasal dermoid cyst",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4522,
        16234,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016970",
          "MEDGEN:371575",
          "MESH:C563455",
          "OMIM:600679",
          "Orphanet:141103",
          "UMLS:C1833473"
        ],
        "synonyms": [
          "nasal dermoid sinus cyst",
          "dermoid cysts, familial frontonasal"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A dermoid cyst that involves the nose."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010921"
    },
    {
      "id": 12347,
      "label": "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6893,
        16089,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017633",
          "MEDGEN:355971",
          "MESH:C566544",
          "OMIM:602471",
          "Orphanet:397623",
          "SCTID:417081007",
          "UMLS:C1865361"
        ],
        "synonyms": [
          "SAMS syndrome",
          "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities",
          "SAMS",
          "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011227"
    },
    {
      "id": 12995,
      "label": "aural atresia, congenital",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018275",
          "MEDGEN:375051",
          "MESH:C564321",
          "OMIM:607842",
          "UMLS:C1842937"
        ],
        "synonyms": [
          "aural atresia, congenital",
          "CAA",
          "aural atresia, congenital, with hyposmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011921"
    },
    {
      "id": 13218,
      "label": "choanal atresia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4349,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9574",
          "GARD:0016951",
          "ICD10CM:Q30.0",
          "ICD9:748.0",
          "MEDGEN:3395",
          "MESH:D002754",
          "MedDRA:10008587",
          "OMIM:608911",
          "Orphanet:137914",
          "SCTID:204508009",
          "UMLS:C0008297",
          "icd11.foundation:2099486655"
        ],
        "synonyms": [
          "atresia of nares",
          "PCA",
          "choanal atresia, POSTERIOR"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction."
      },
      "child_count": 4,
      "reference_id": "MONDO:0012155"
    },
    {
      "id": 13228,
      "label": "BNAR syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2727,
        4370,
        16089,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010595",
          "MEDGEN:413305",
          "MESH:C567672",
          "OMIM:608980",
          "Orphanet:217266",
          "SCTID:717940006",
          "UMLS:C2750433"
        ],
        "synonyms": [
          "bifid nose with or without anorectal and renal anomalies",
          "BNAR",
          "bifid NOSE with or without anorectal and renal anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012165"
    },
    {
      "id": 19424,
      "label": "familial nasal acilia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002254",
          "MEDGEN:1647725",
          "Orphanet:922",
          "SCTID:763532008",
          "UMLS:C4706505"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019634"
    },
    {
      "id": 21266,
      "label": "tympanic paraganglioma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7791,
        16045,
        18718,
        22991
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008658",
          "GTR:AN0102047",
          "GTR:AN0102048",
          "MEDGEN:105375",
          "MESH:D043604",
          "NCIT:C8428",
          "SCTID:253031000",
          "UMLS:C0474820"
        ],
        "synonyms": [
          "tympanic paraganglioma",
          "Glomus Tympanicum Tumor",
          "Glomus Tympanicum Tumors",
          "Glomus Tympanicum Tumour",
          "Glomus Tympanicum Tumours",
          "Glomus tympanicum paraganglioma",
          "Glomus tympanicum tumor",
          "Glomus tympanicum tumour",
          "Tumor, Glomus Tympanicum",
          "Tumors, Glomus Tympanicum",
          "Tympanic Paraganglioma",
          "Tympanic paraganglioma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0023682"
    },
    {
      "id": 23397,
      "label": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18718,
        19507,
        20169
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111738",
          "GARD:0017926",
          "MEDGEN:1648389",
          "OMIM:301018",
          "Orphanet:500188",
          "UMLS:C4746975"
        ],
        "synonyms": [
          "DFNX7",
          "deafness, X-linked 7",
          "deafness, X-linked 7, X-linked recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044702"
    },
    {
      "id": 23406,
      "label": "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18346,
        18718,
        19714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070148",
          "GARD:0016958",
          "GARD:0017937",
          "MEDGEN:330880",
          "MEDGEN:482853",
          "MESH:C564296",
          "OMIM:608088",
          "OMIM:614575",
          "Orphanet:139564",
          "Orphanet:504476",
          "SCTID:717825008",
          "UMLS:C1842586",
          "UMLS:C3281223"
        ],
        "synonyms": [
          "CABV syndrome",
          "CANVAS",
          "HSAN with cough and gastroesophageal reflux",
          "HSAN1B",
          "HSN1B",
          "cerebellar ataxia with bilateral vestibulopathy syndrome",
          "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",
          "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux",
          "hereditary sensory and autonomic neuropathy type 1B",
          "hereditary sensory and autonomic neuropathy type IB",
          "hereditary sensory neuropathy type IB",
          "neuropathy, hereditary sensory and autonomic, type 1B",
          "neuropathy, hereditary sensory, type IB"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044720"
    },
    {
      "id": 23468,
      "label": "tonsillar lymphoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6479,
        7558,
        8421,
        9011,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025917",
          "MEDGEN:234432",
          "NCIT:C5918",
          "UMLS:C1336765"
        ],
        "synonyms": [
          "Primary tonsillar lymphoma",
          "lymphoma of the tonsil",
          "lymphoma of tonsil",
          "tonsil lymphoma",
          "tonsillar lymphoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044884"
    },
    {
      "id": 29399,
      "label": "benign paroxysmal positional vertigo",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6654,
        18718,
        22991,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13941",
          "ICD9:386.11",
          "MEDGEN:57837",
          "MESH:D065635",
          "OMIM:193007",
          "SCTID:111541001",
          "UMLS:C0155502"
        ],
        "synonyms": [
          "BPPV",
          "BRV",
          "benign paroxysmal positional vertigo",
          "familial benign recurrent vertigo",
          "familial vestibulopathy",
          "vertigo, benign paroxysmal positional",
          "vertigo, benign recurrent",
          "vestibulopathy, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed."
      },
      "child_count": 0,
      "reference_id": "MONDO:8000018"
    },
    {
      "id": 29400,
      "label": "vertigo, benign recurrent, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6654,
        18718,
        22991,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027039",
          "MEDGEN:412807",
          "MESH:C567620",
          "UMLS:C2749845"
        ],
        "synonyms": [
          "BRV1",
          "vertigo, benign recurrent, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:8000019"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 21538,
      "label": "otorhinolaryngologic disease"
    }
  ]
}