{
  "id": 11730,
  "label": "X-linked mixed hearing loss with perilymphatic gusher",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010576",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4547,
      "label": "inner ear disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4499,
        20423
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2952",
          "EFO:0009672",
          "ICD10CM:H80-H83",
          "MEDGEN:141671",
          "MESH:D007759",
          "NCIT:C27166",
          "SCTID:232297009",
          "UMLS:C0494559"
        ],
        "synonyms": [
          "disease of internal ear",
          "disease or disorder of internal ear",
          "disorder of internal ear",
          "inner Ear disorder",
          "internal Ear disorder",
          "internal ear disease",
          "internal ear disease or disorder",
          "vestibular disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems."
      },
      "child_count": 30,
      "reference_id": "MONDO:0002467"
    },
    {
      "id": 16853,
      "label": "prelingual non-syndromic genetic hearing loss",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025069",
          "MEDGEN:1647959",
          "Orphanet:216445",
          "SCTID:764098007",
          "UMLS:C4706679"
        ],
        "synonyms": [
          "prelingual non-syndromic genetic hearing loss",
          "isolated prelingual genetic deafness",
          "prelingual non-syndromic genetic deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition."
      },
      "child_count": 1,
      "reference_id": "MONDO:0016297"
    },
    {
      "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": 19391,
      "label": "X-linked nonsyndromic hearing loss",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19315,
        20169
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050566",
          "GARD:0016790",
          "MEDGEN:1825990",
          "Orphanet:90625",
          "UMLS:C5680192"
        ],
        "synonyms": [
          "X-linked isolated neurosensory hearing loss type DFN",
          "X-linked isolated sensorineural hearing loss type DFN",
          "X-linked non-syndromic neurosensory hearing loss type DFN",
          "X-linked non-syndromic sensorineural hearing loss type DFN",
          "X-linked deafness",
          "X-linked isolated neurosensory deafness type DFN",
          "X-linked isolated sensorineural deafness type DFN",
          "X-linked non-syndromic neurosensory deafness type DFN",
          "X-linked non-syndromic sensorineural deafness type DFN",
          "X-linked nonsyndromic deafness",
          "X-linked nonsyndromic genetic deafness",
          "nonsyndromic deafness, X-linked",
          "nonsyndromic genetic deafness, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked form of nonsyndromic deafness."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019586"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4547,
      "label": "inner ear disorder"
    },
    {
      "id": 16853,
      "label": "prelingual non-syndromic genetic hearing loss"
    },
    {
      "id": 18718,
      "label": "hereditary otorhinolaryngologic disease"
    },
    {
      "id": 19391,
      "label": "X-linked nonsyndromic hearing loss"
    }
  ]
}