{
  "id": 16691,
  "label": "paroxysmal dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016058",
  "properties": {
    "xrefs": [
      "GARD:0020340",
      "ICD9:333.99",
      "MEDGEN:97951",
      "Orphanet:200037",
      "SCTID:230310003",
      "UMLS:C0393588",
      "icd11.foundation:2047715743"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19719,
      "label": "combined dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019432",
          "MEDGEN:1842879",
          "Orphanet:98203",
          "UMLS:C5680244"
        ],
        "synonyms": [
          "dystonia-plus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0020065"
    }
  ],
  "children": [
    {
      "id": 12111,
      "label": "dystonia 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16691,
        17944
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090044",
          "GARD:0016656",
          "MEDGEN:371427",
          "MESH:C563401",
          "NANDO:1200520",
          "OMIM:601042",
          "Orphanet:53583",
          "SCTID:715564000",
          "UMLS:C1832855"
        ],
        "synonyms": [
          "DYT9",
          "dystonia 9",
          "dystonia type 9",
          "episodic choreoathetosis/spasticity",
          "Cse choreoathetosis, paroxysmal, with episodic ataxia",
          "choreoathetosis, kinesigenic, with episodic ataxia and spasticity",
          "choreoathetosis/spasticity, episodic",
          "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010983"
    },
    {
      "id": 16273,
      "label": "paroxysmal dyskinesia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16691
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018721",
          "ICD9:333.5",
          "MEDGEN:156242",
          "Orphanet:1431",
          "SCTID:49949003",
          "UMLS:C0752210"
        ],
        "synonyms": [
          "paroxysmal choreoathetosis",
          "paroxysmal dystonic choreoathetosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome)."
      },
      "child_count": 5,
      "reference_id": "MONDO:0015427"
    },
    {
      "id": 18997,
      "label": "benign paroxysmal torticollis of infancy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16691
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018913",
          "MEDGEN:782128",
          "Orphanet:71518",
          "SCTID:719521002",
          "UMLS:C3494934",
          "icd11.foundation:545726308"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019113"
    }
  ],
  "roots": [
    {
      "id": 19719,
      "label": "combined dystonia"
    }
  ]
}