{
  "id": 16378,
  "label": "isolated congenital auditory ossicle malformation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015570",
  "properties": {
    "xrefs": [
      "GARD:0020040",
      "MEDGEN:510593",
      "Orphanet:162526",
      "UMLS:C0158587"
    ],
    "synonyms": [
      "congenital auditory ossicle malformation without external ear abnormality"
    ],
    "categories": [
      {
        "ref": "MONDO:0024623",
        "name": "otorhinolaryngologic disease"
      }
    ],
    "definition": "Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16398,
      "label": "middle ear anomaly"
    }
  ]
}