{
  "id": 11353,
  "label": "Usher syndrome type 1C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010171",
  "properties": {
    "xrefs": [
      "DOID:0110830",
      "GARD:0005437",
      "MEDGEN:338506",
      "OMIM:276904",
      "UMLS:C1848604"
    ],
    "synonyms": [
      "USH1C",
      "Usher syndrome type 1C",
      "USHER syndrome, type IC",
      "Usher syndrome, Acadian variety",
      "Usher syndrome, type 1C",
      "Usher syndrome, type I, Acadian variety"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner."
  },
  "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"
    }
  ]
}