{
  "id": 12913,
  "label": "autosomal dominant nonsyndromic hearing loss 44",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011832",
  "properties": {
    "xrefs": [
      "DOID:0110569",
      "GARD:0018118",
      "MEDGEN:334525",
      "MESH:C564399",
      "OMIM:607453",
      "UMLS:C1843895"
    ],
    "synonyms": [
      "CCDC50 autosomal dominant nonsyndromic deafness",
      "DFNA44",
      "autosomal dominant deafness 44",
      "autosomal dominant nonsyndromic deafness 44",
      "autosomal dominant nonsyndromic deafness caused by mutation in CCDC50",
      "autosomal dominant nonsyndromic deafness type 44",
      "deafness, autosomal dominant 44",
      "deafness, autosomal dominant type 44"
    ],
    "categories": [
      {
        "ref": "MONDO:0002409",
        "name": "auditory system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19392,
      "label": "autosomal dominant nonsyndromic hearing loss",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050564",
          "GARD:0016791",
          "MEDGEN:1843285",
          "OMIMPS:124900",
          "Orphanet:90635",
          "UMLS:C5779548"
        ],
        "synonyms": [
          "autosomal dominant deafness",
          "autosomal dominant isolated neurosensory hearing loss type DFNA",
          "autosomal dominant isolated sensorineural hearing loss type DFNA",
          "autosomal dominant non-syndromic neurosensory hearing loss type DFNA",
          "autosomal dominant non-syndromic sensorineural hearing loss type DFNA",
          "autosomal dominant nonsyndromic hearing impairment",
          "autosomal dominant nonsyndromic hearing loss",
          "autosomal dominant isolated deafness",
          "autosomal dominant isolated neurosensory deafness type DFNA",
          "autosomal dominant isolated sensorineural deafness type DFNA",
          "autosomal dominant non-syndromic neurosensory deafness type DFNA",
          "autosomal dominant non-syndromic sensorineural deafness type DFNA",
          "autosomal dominant nonsyndromic deafness",
          "autosomal dominant nonsyndromic genetic deafness",
          "autosomal dominant nonsyndromic hearing loss and deafness",
          "deafness, autosomal dominant",
          "nonsyndromic deafness, autosomal dominant",
          "nonsyndromic genetic deafness, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of nonsyndromic deafness."
      },
      "child_count": 150,
      "reference_id": "MONDO:0019587"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19392,
      "label": "autosomal dominant nonsyndromic hearing loss"
    }
  ]
}