{
  "id": 8878,
  "label": "early-onset generalized limb-onset dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007492",
  "properties": {
    "xrefs": [
      "DOID:0060730",
      "GARD:0002027",
      "MEDGEN:338823",
      "MESH:C538005",
      "NANDO:1200512",
      "NANDO:2100240",
      "NANDO:2200884",
      "NCIT:C116718",
      "OMIM:128100",
      "Orphanet:256",
      "UMLS:C1851945"
    ],
    "synonyms": [
      "DYT-TOR1A",
      "DYT1",
      "EOTD",
      "Oppenheim dystonia",
      "Oppenheim's dystonia",
      "dystonia musculorum deformans",
      "dystonia-1, torsion",
      "early onset primary dystonia",
      "early onset torsion dystonia",
      "early-onset generalised torsion dystonia",
      "early-onset generalized limb-onset dystonia",
      "early-onset generalized torsion dystonia",
      "early-onset primary dystonia",
      "early-onset torsion dystonia",
      "idiopathic dystonia",
      "torsion dystonia type 1",
      "DYT-TOR1A dystonia",
      "Dyt1",
      "Early-onset Primary dystonia",
      "Early-onset torsion dystonia",
      "Primary torsion dystonia",
      "dystonia 1",
      "dystonia 1, torsion, Autosomal dominant",
      "dystonia 1, torsion, autosomal dominant",
      "dystonia musculorum deformans 1",
      "idiopathic dystonia DYT1",
      "idiopathic torsion dystonia",
      "torsion dystonia 1",
      "torsion dystonia 1, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 12369,
      "label": "torsion dystonia with onset in infancy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090058",
          "GARD:0009631",
          "MEDGEN:400706",
          "MESH:C536969",
          "OMIM:602554",
          "UMLS:C1865205"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011249"
    }
  ],
  "roots": [
    {
      "id": 23774,
      "label": "early-onset generalized dystonia"
    }
  ]
}