{
  "id": 16994,
  "label": "Usher syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016484",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 11351,
      "label": "Usher syndrome type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16994
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010169"
    },
    {
      "id": 12654,
      "label": "Usher syndrome type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16994
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011558"
    },
    {
      "id": 13703,
      "label": "Usher syndrome type 2D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16994
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110840",
          "GARD:0015514",
          "MEDGEN:292821",
          "OMIM:611383",
          "UMLS:C1568249"
        ],
        "synonyms": [
          "USH2D",
          "Usher syndrome caused by mutation in WHRN",
          "Usher syndrome type 2D",
          "WHRN Usher syndrome",
          "USHER syndrome, type IID",
          "Usher syndrome, type 2D"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012662"
    }
  ],
  "roots": [
    {
      "id": 19319,
      "label": "Usher syndrome"
    }
  ]
}