{
  "id": 13935,
  "label": "torsion dystonia 17",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012895",
  "properties": {
    "xrefs": [
      "DOID:0090042",
      "GARD:0010536",
      "MEDGEN:391003",
      "MESH:C567319",
      "NANDO:1200530",
      "OMIM:612406",
      "Orphanet:370103",
      "UMLS:C2676281"
    ],
    "synonyms": [
      "dystonia-17, primary torsion",
      "torsion dystonia type 17",
      "DYT17",
      "dystonia 17, torsion, autosomal recessive",
      "primary dystonia, DYT17 type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16634,
      "label": "focal, segmental or multifocal dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16326
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018749",
          "MEDGEN:1842644",
          "Orphanet:1866",
          "UMLS:C5680914"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015990"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16634,
      "label": "focal, segmental or multifocal dystonia"
    }
  ]
}