{
  "id": 13703,
  "label": "Usher syndrome type 2D",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012662",
  "properties": {
    "xrefs": [
      "DOID:0110840",
      "GARD:0015514",
      "MEDGEN:292821",
      "OMIM:611383",
      "UMLS:C1568249"
    ],
    "synonyms": [
      "USH2D",
      "Usher syndrome caused by mutation in WHRN",
      "Usher syndrome type 2D",
      "WHRN Usher syndrome",
      "USHER syndrome, type IID",
      "Usher syndrome, type 2D"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16994,
      "label": "Usher syndrome type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110827",
          "GARD:0005440",
          "MEDGEN:83288",
          "NANDO:1200943",
          "NCIT:C126328",
          "Orphanet:231178",
          "SCTID:232058008",
          "UMLS:C0339534",
          "icd11.foundation:33632175"
        ],
        "synonyms": [
          "USH2",
          "Usher syndrome type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa."
      },
      "child_count": 3,
      "reference_id": "MONDO:0016484"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16994,
      "label": "Usher syndrome type 2"
    }
  ]
}