{
  "id": 23803,
  "label": "Usher syndrome, type 1D/F",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100050",
  "properties": {
    "xrefs": [
      "GARD:0026025"
    ],
    "synonyms": [
      "Usher syndrome, type 1D/F, CDH23/PCDH15, digenic",
      "USH1D/F, CDH23/PCDH15, digenic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11350,
      "label": "Usher syndrome type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110826",
          "GARD:0005435",
          "MEDGEN:292820",
          "NANDO:1200942",
          "NCIT:C126327",
          "Orphanet:231169",
          "SCTID:232057003",
          "UMLS:C1568247",
          "icd11.foundation:237039059"
        ],
        "synonyms": [
          "USH1",
          "Usher syndrome type 1",
          "Usher syndrome, type 1",
          "retinitis pigmentosa and congenital deafness",
          "USH1A",
          "USHER syndrome, type I",
          "Usher syndrome, type 1A",
          "Usher syndrome, type 1B",
          "Usher syndrome, type I, French variety",
          "Usher syndrome, type I, French variety, formerly",
          "Usher syndrome, type Ia",
          "Usher syndrome, type Ia, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa."
      },
      "child_count": 9,
      "reference_id": "MONDO:0010168"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11350,
      "label": "Usher syndrome type 1"
    }
  ]
}