{
  "id": 16853,
  "label": "prelingual non-syndromic genetic hearing loss",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016297",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 19315,
      "label": "nonsyndromic genetic hearing loss",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7048,
        22991,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050563",
          "MEDGEN:1830101",
          "MESH:C580334",
          "Orphanet:87884",
          "UMLS:C5680182",
          "icd11.foundation:1154032108"
        ],
        "synonyms": [
          "nonsyndromic deafness",
          "nonsyndromic hearing loss",
          "nonsyndromic genetic hearing loss",
          "familial deafness",
          "isolated genetic deafness",
          "non-syndromic genetic deafness",
          "nonsyndromic genetic deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease characterized by hearing loss that is not part of a larger syndrome."
      },
      "child_count": 18,
      "reference_id": "MONDO:0019497"
    }
  ],
  "children": [
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 19315,
      "label": "nonsyndromic genetic hearing loss"
    }
  ]
}