{
  "id": 15623,
  "label": "dystonia 27",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014627",
  "properties": {
    "xrefs": [
      "DOID:0090050",
      "GARD:0017819",
      "MEDGEN:907580",
      "OMIM:616411",
      "Orphanet:464440",
      "UMLS:C4225336"
    ],
    "synonyms": [
      "COL6A3 dystonic disorder",
      "dystonia 27",
      "dystonia type 27",
      "dystonic disorder caused by mutation in COL6A3",
      "DYT27",
      "primary dystonia, DYT27 type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2938,
      "label": "segmental dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050838",
          "GARD:0027528",
          "ICD9:333.89",
          "MEDGEN:744778",
          "SCTID:427945008",
          "UMLS:C1997740"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia that affects two or more adjacent parts of the body."
      },
      "child_count": 2,
      "reference_id": "MONDO:0000479"
    },
    {
      "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": 2938,
      "label": "segmental dystonia"
    },
    {
      "id": 16634,
      "label": "focal, segmental or multifocal dystonia"
    }
  ]
}