{
  "id": 11913,
  "label": "retinitis pigmentosa-deafness syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010775",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 19319,
      "label": "Usher syndrome"
    }
  ]
}