{
  "id": 12317,
  "label": "Usher syndrome type 1E",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011195",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11350,
      "label": "Usher syndrome type 1"
    }
  ]
}