{
  "id": 14285,
  "label": "autosomal recessive nonsyndromic hearing loss 84A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013249",
  "properties": {
    "xrefs": [
      "DOID:0110529",
      "GARD:0022634",
      "MEDGEN:462004",
      "OMIM:613391",
      "UMLS:C3150654"
    ],
    "synonyms": [
      "autosomal recessive nonsyndromic hearing loss 84A",
      "DFNB84A",
      "PTPRQ autosomal recessive nonsyndromic deafness",
      "autosomal recessive deafness 84A",
      "autosomal recessive deafness 84A with vestibular dysfunction",
      "autosomal recessive nonsyndromic deafness 84A",
      "autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ",
      "autosomal recessive nonsyndromic deafness type 84A",
      "deafness, autosomal recessive 84",
      "deafness, autosomal recessive 84A",
      "deafness, autosomal recessive 84A, with vestibular dysfunction",
      "deafness, autosomal recessive 84a",
      "deafness, autosomal recessive type 84A"
    ],
    "categories": [
      {
        "ref": "MONDO:0002409",
        "name": "auditory system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19393,
      "label": "hearing loss, autosomal recessive",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        19315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050565",
          "GARD:0018117",
          "MEDGEN:337623",
          "MESH:C564609",
          "OMIM:607197",
          "OMIMPS:220290",
          "Orphanet:90636",
          "UMLS:C1846647"
        ],
        "synonyms": [
          "hearing loss, autosomal recessive",
          "autosomal recessive isolated neurosensory deafness type DFNB",
          "autosomal recessive isolated sensorineural deafness type DFNB",
          "autosomal recessive non-syndromic neurosensory deafness type DFNB",
          "autosomal recessive non-syndromic sensorineural deafness type DFNB",
          "autosomal recessive nonsyndromic deafness",
          "autosomal recessive nonsyndromic genetic deafness",
          "deafness, autosomal recessive",
          "deafness, neurosensory nonsyndromic recessive, DFN",
          "nonsyndromic deafness, autosomal recessive",
          "nonsyndromic genetic deafness, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of nonsyndromic deafness."
      },
      "child_count": 204,
      "reference_id": "MONDO:0019588"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19393,
      "label": "hearing loss, autosomal recessive"
    }
  ]
}