{
  "id": 12229,
  "label": "autosomal dominant nonsyndromic hearing loss 3A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011103",
  "properties": {
    "xrefs": [
      "DOID:0110564",
      "GARD:0009933",
      "MEDGEN:436512",
      "MESH:C567277",
      "OMIM:601544",
      "UMLS:C2675750"
    ],
    "synonyms": [
      "DFNA3",
      "DFNA3A",
      "GJB2 autosomal dominant nonsyndromic deafness",
      "NSRD1",
      "autosomal dominant deafness 3A",
      "autosomal dominant nonsyndromic deafness 3A",
      "autosomal dominant nonsyndromic deafness caused by mutation in GJB2",
      "autosomal dominant nonsyndromic deafness type 3A",
      "deafness, autosomal dominant 3A",
      "deafness, autosomal dominant 3a",
      "deafness, autosomal dominant nonsyndromic sensorineural 3",
      "deafness, autosomal dominant type 3A",
      "neurosensory nonsyndromic dominant deafness 1"
    ],
    "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 GJB2 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"
    }
  ]
}