{
  "id": 11351,
  "label": "Usher syndrome type 2A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010169",
  "properties": {
    "xrefs": [
      "DOID:0110838",
      "GARD:0015241",
      "MEDGEN:338513",
      "MESH:C536490",
      "OMIM:276901",
      "UMLS:C1848634"
    ],
    "synonyms": [
      "USH2A",
      "USH2A Usher syndrome",
      "Usher syndrome caused by mutation in USH2A",
      "Usher syndrome type 2A",
      "retinal disease in usher syndrome type IIA, modifier of",
      "US2",
      "USHER syndrome, type IIA",
      "Usher syndrome, type 2A"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A 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"
    }
  ]
}