{
  "id": 14016,
  "label": "autosomal dominant nonsyndromic hearing loss 2B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012976",
  "properties": {
    "xrefs": [
      "DOID:0110559",
      "GARD:0018131",
      "MEDGEN:390742",
      "MESH:C567214",
      "OMIM:612644",
      "UMLS:C2675236"
    ],
    "synonyms": [
      "DFNA2B",
      "GJB3 autosomal dominant nonsyndromic deafness",
      "autosomal dominant deafness 2B",
      "autosomal dominant nonsyndromic deafness 2B",
      "autosomal dominant nonsyndromic deafness caused by mutation in GJB3",
      "autosomal dominant nonsyndromic deafness type 2B",
      "deafness, autosomal dominant 2B",
      "deafness, autosomal dominant 2b",
      "deafness, autosomal dominant type 2B"
    ],
    "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 GJB3 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"
    }
  ]
}