{
  "id": 19319,
  "label": "Usher syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019501",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 11913,
      "label": "retinitis pigmentosa-deafness syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110829",
          "GARD:0004684",
          "MEDGEN:1830314",
          "OMIM:500004",
          "SCTID:57838006",
          "UMLS:C5779620"
        ],
        "synonyms": [
          "retinitis pigmentosa-deafness syndrome",
          "RP21, formerly",
          "RP8, formerly",
          "retinitis pigmentosa 21",
          "retinitis pigmentosa 21, formerly",
          "retinitis pigmentosa 8",
          "retinitis pigmentosa 8, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010775"
    },
    {
      "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"
    },
    {
      "id": 16995,
      "label": "Usher syndrome type 3",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110828",
          "GARD:0005442",
          "MEDGEN:339336",
          "NANDO:1200944",
          "NCIT:C126329",
          "Orphanet:231183",
          "UMLS:C1568248",
          "icd11.foundation:1734357568"
        ],
        "synonyms": [
          "USH3",
          "Usher syndrome type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016485"
    },
    {
      "id": 21784,
      "label": "Usher syndrome, type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025504",
          "MEDGEN:1648315",
          "OMIM:618144",
          "UMLS:C4748364"
        ],
        "synonyms": [
          "Usher syndrome, type IV",
          "USH4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0029141"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    }
  ]
}