{
  "id": 12193,
  "label": "autosomal recessive nonsyndromic hearing loss 12",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011067",
  "properties": {
    "xrefs": [
      "DOID:0110467",
      "GARD:0022590",
      "MEDGEN:330455",
      "MESH:C563327",
      "OMIM:601386",
      "UMLS:C1832394"
    ],
    "synonyms": [
      "autosomal recessive nonsyndromic hearing loss 12",
      "DFNB12",
      "autosomal recessive deafness 12",
      "autosomal recessive nonsyndromic deafness 12",
      "autosomal recessive nonsyndromic deafness type 12",
      "deafness, autosomal recessive 12",
      "deafness, autosomal recessive 12, modifier of",
      "deafness, autosomal recessive type 12"
    ],
    "categories": [
      {
        "ref": "MONDO:0002409",
        "name": "auditory system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22."
  },
  "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"
    }
  ]
}