{
  "id": 12654,
  "label": "Usher syndrome type 2C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011558",
  "properties": {
    "xrefs": [
      "DOID:0110839",
      "GARD:0008497",
      "MEDGEN:419359",
      "MESH:C536492",
      "NCIT:C153174",
      "OMIM:605472",
      "UMLS:C2931213"
    ],
    "synonyms": [
      "USH2C",
      "Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant",
      "Usher syndrome, type 2C, autosomal recessive, digenic dominant",
      "Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant",
      "USHER syndrome, type IIC",
      "Usher syndrome, type 2C",
      "Usher syndrome, type IIb",
      "Usher syndrome, type IIb, formerly",
      "Usher syndrome, type IIc, Gpr98/Pdzd7, digenic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner."
  },
  "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"
    }
  ]
}