{
  "id": 14340,
  "label": "autosomal dominant nonsyndromic hearing loss 51",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013305",
  "properties": {
    "xrefs": [
      "DOID:0110577",
      "GARD:0018133",
      "MEDGEN:463625",
      "OMIM:613558",
      "UMLS:C3160736"
    ],
    "synonyms": [
      "chromosome 9q21.11 duplication syndrome",
      "DFNA51",
      "autosomal dominant deafness 51",
      "autosomal dominant nonsyndromic deafness 51",
      "autosomal dominant nonsyndromic deafness type 51",
      "chromosome 9Q21.11 Duplication syndrome",
      "deafness, autosomal dominant 51",
      "deafness, autosomal dominant type 51"
    ],
    "categories": [
      {
        "ref": "MONDO:0002409",
        "name": "auditory system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes."
  },
  "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"
    }
  ]
}