{
  "id": 16995,
  "label": "Usher syndrome type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016485",
  "properties": {
    "xrefs": [
      "DOID:0110828",
      "GARD:0005442",
      "MEDGEN:339336",
      "NANDO:1200944",
      "NCIT:C126329",
      "Orphanet:231183",
      "UMLS:C1568248",
      "icd11.foundation:1734357568"
    ],
    "synonyms": [
      "USH3",
      "Usher syndrome type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19319,
      "label": "Usher syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050439",
          "GARD:0007843",
          "MESH:D052245",
          "MedDRA:10063396",
          "NANDO:1200941",
          "NCIT:C85217",
          "NORD:1816",
          "OMIMPS:276900",
          "Orphanet:886",
          "icd11.foundation:1452641873"
        ],
        "synonyms": [
          "USH",
          "Usher's syndrome",
          "ush",
          "deafness-retinitis pigmentosa syndrome",
          "retinitis pigmentosa-deafness syndrome",
          "Graefe-Usher syndrome",
          "Hallgren syndrome",
          "dystrophia retinae pigmentosa-dysostosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019501"
    }
  ],
  "children": [
    {
      "id": 11352,
      "label": "Usher syndrome type 3A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110841",
          "GARD:0015242",
          "MEDGEN:1830415",
          "OMIM:276902",
          "UMLS:C5779850"
        ],
        "synonyms": [
          "CLRN1 Usher syndrome",
          "USH3A",
          "Usher syndrome caused by mutation in CLRN1",
          "Usher syndrome type 3A",
          "USHER syndrome, type IIIA",
          "Usher syndrome, type 3",
          "Usher syndrome, type 3A"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010170"
    },
    {
      "id": 14806,
      "label": "Usher syndrome type 3B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110842",
          "GARD:0015813",
          "MEDGEN:482696",
          "OMIM:614504",
          "UMLS:C3281066"
        ],
        "synonyms": [
          "HARS Usher syndrome",
          "USH3B",
          "Usher syndrome caused by mutation in HARS",
          "USHER syndrome, type IIIB",
          "Usher syndrome, type 3B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013788"
    }
  ],
  "roots": [
    {
      "id": 19319,
      "label": "Usher syndrome"
    }
  ]
}