{
  "id": 12835,
  "label": "Usher syndrome type 1G",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011748",
  "properties": {
    "xrefs": [
      "DOID:0110834",
      "GARD:0015404",
      "MEDGEN:339683",
      "MESH:C564643",
      "OMIM:606943",
      "UMLS:C1847089"
    ],
    "synonyms": [
      "USH1G",
      "USH1G Usher syndrome",
      "Usher syndrome caused by mutation in USH1G",
      "Usher syndrome type 1G",
      "USHER syndrome, type Ig",
      "Usher syndrome, type 1G"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene."
  },
  "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"
    }
  ]
}