{
  "id": 11350,
  "label": "Usher syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010168",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "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": 11353,
      "label": "Usher syndrome type 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11350
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010171"
    },
    {
      "id": 12112,
      "label": "Usher syndrome type 1D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110831",
          "GARD:0005438",
          "MEDGEN:322051",
          "OMIM:601067",
          "UMLS:C1832845"
        ],
        "synonyms": [
          "USH1D",
          "Usher syndrome, type 1D/F digenic",
          "USHER syndrome, type ID",
          "Ush1D/F, Cdh23/Pcdh15, digenic",
          "Usher syndrome, type 1D",
          "Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic"
        ],
        "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 cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010984"
    },
    {
      "id": 12308,
      "label": "Usher syndrome type 1F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110832",
          "GARD:0010043",
          "MEDGEN:356393",
          "OMIM:602083",
          "UMLS:C1865885"
        ],
        "synonyms": [
          "USH1F",
          "Usher syndrome type 1F",
          "USHER syndrome, type IF",
          "Usher syndrome, type 1F"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011186"
    },
    {
      "id": 12317,
      "label": "Usher syndrome type 1E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110833",
          "GARD:0005439",
          "MEDGEN:400865",
          "OMIM:602097",
          "UMLS:C1865865"
        ],
        "synonyms": [
          "USH1E",
          "USHER syndrome, type IE",
          "Usher syndrome, type 1E"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011195"
    },
    {
      "id": 12835,
      "label": "Usher syndrome type 1G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110834",
          "GARD:0015404",
          "MEDGEN:339683",
          "MESH:C564643",
          "OMIM:606943",
          "UMLS:C1847089"
        ],
        "synonyms": [
          "USH1G",
          "USH1G Usher syndrome",
          "Usher syndrome caused by mutation in USH1G",
          "Usher syndrome type 1G",
          "USHER syndrome, type Ig",
          "Usher syndrome, type 1G"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011748"
    },
    {
      "id": 14008,
      "label": "Usher syndrome type 1H",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110835",
          "GARD:0015573",
          "MEDGEN:393392",
          "MESH:C567227",
          "OMIM:612632",
          "UMLS:C2675458"
        ],
        "synonyms": [
          "USH1H",
          "Usher syndrome, type 1H",
          "USHER syndrome, type IH"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012968"
    },
    {
      "id": 15011,
      "label": "Usher syndrome type 1K",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110837",
          "GARD:0015890",
          "MEDGEN:761332",
          "OMIM:614990",
          "UMLS:C3539124"
        ],
        "synonyms": [
          "USH1K",
          "USHER syndrome, type IK"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014001"
    },
    {
      "id": 23803,
      "label": "Usher syndrome, type 1D/F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026025"
        ],
        "synonyms": [
          "Usher syndrome, type 1D/F, CDH23/PCDH15, digenic",
          "USH1D/F, CDH23/PCDH15, digenic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100050"
    },
    {
      "id": 24483,
      "label": "Usher syndrome type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070655",
          "GARD:0005436",
          "MEDGEN:419358",
          "MESH:C536485",
          "OMIM:276900",
          "UMLS:C2931206"
        ],
        "synonyms": [
          "Usher syndrome, type 1B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene"
      },
      "child_count": 0,
      "reference_id": "MONDO:0700087"
    }
  ],
  "roots": [
    {
      "id": 19319,
      "label": "Usher syndrome"
    }
  ]
}