{
  "id": 2935,
  "label": "generalized dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000476",
  "properties": {
    "xrefs": [
      "DOID:0050835",
      "GARD:0021618",
      "ICD9:333.6",
      "ICD9:333.8",
      "ICD9:333.89",
      "MEDGEN:341342",
      "MESH:D004422",
      "Orphanet:376724",
      "SCTID:425492002",
      "UMLS:C1848954"
    ],
    "synonyms": [
      "dystonia deformans progressiva",
      "generalised isolated dystonia",
      "generalized isolated dystonia",
      "Idiopathic torsion dystonia",
      "Idiopathic torsion dystonias",
      "Oppenheim Ziehen disease",
      "Oppenheim-Ziehen disease",
      "Progressive torsion spasm",
      "childhood torsion disease",
      "dystonia deformans musculorum",
      "dystonia musculorum deformans",
      "dystonia, Idiopathic torsion",
      "dystonias, Idiopathic torsion",
      "dystonias, torsion",
      "familial dystonia",
      "fragments of torsion dystonia",
      "idiopathic familial dystonia",
      "idiopathic non-familial dystonia",
      "idiopathic torsion dystonia",
      "spasm, Progressive torsion",
      "symptomatic torsion dystonia",
      "torsion disease of childhood",
      "torsion disease, childhood",
      "torsion dystonia",
      "torsion dystonia, Idiopathic",
      "torsion spasm, Progressive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16326,
      "label": "isolated dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019985",
          "MEDGEN:1842310",
          "Orphanet:156159",
          "UMLS:C5679608"
        ],
        "synonyms": [
          "Pure dystonia",
          "isolated dystonic disorder",
          "nonsyndromic dystonia (disease)",
          "nonsyndromic dystonic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia (disease) that is not part of a larger syndrome."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015494"
    }
  ],
  "children": [
    {
      "id": 12384,
      "label": "torsion dystonia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2935
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090039",
          "GARD:0009630",
          "MEDGEN:236274",
          "MESH:C538003",
          "NANDO:1200517",
          "NCIT:C156361",
          "OMIM:602629",
          "Orphanet:98806",
          "SCTID:702448007",
          "UMLS:C1414216"
        ],
        "synonyms": [
          "DYT-THAP1",
          "DYT6",
          "THAP1 generalised isolated dystonia",
          "THAP1 generalized isolated dystonia",
          "generalised cervical and upper-limb-onset dystonia",
          "generalised isolated dystonia caused by mutation in THAP1",
          "generalized cervical and upper-limb-onset dystonia",
          "generalized isolated dystonia caused by mutation in THAP1",
          "idiopathic torsion dystonia of mixed type",
          "torsion dystonia type 6",
          "adolescent-onset dystonia of mixed type",
          "dystonia 6",
          "dystonia 6, torsion",
          "primary dystonia, DYT6 type",
          "torsion dystonia adult onset mixed type",
          "torsion dystonia, adult-onset, mixed type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011264"
    },
    {
      "id": 14828,
      "label": "dystonia 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2935
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090046",
          "GARD:0017383",
          "MEDGEN:482866",
          "OMIM:614588",
          "Orphanet:306734",
          "UMLS:C3281236"
        ],
        "synonyms": [
          "DYT21",
          "dystonia 21",
          "dystonia type 21",
          "primary dystonia, DYT21 type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013813"
    },
    {
      "id": 23774,
      "label": "early-onset generalized dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2935
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013671"
        ],
        "synonyms": [
          "DYT-KMT2B",
          "early-onset, generalised dystonia with mild syndromic features",
          "early-onset, generalized dystonia with mild syndromic features",
          "early-onset generalised isolated dystonia",
          "early-onset generalized isolated dystonia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100016"
    }
  ],
  "roots": [
    {
      "id": 16326,
      "label": "isolated dystonia"
    }
  ]
}