{
  "id": 24484,
  "label": "paroxysmal nonkinesigenic dyskinesia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700088",
  "properties": {
    "xrefs": [
      "GARD:0008722",
      "MEDGEN:401504",
      "Orphanet:98810",
      "UMLS:C1869117"
    ],
    "synonyms": [
      "Paroxystic non-kinesigenic choreoathetosis",
      "DYT-MR-1",
      "Paroxysomal nonkinesigenic dyskinesia",
      "paroxysmal non-kinesigenic dyskinesia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 13675,
      "label": "paroxysmal nonkinesigenic dyskinesia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24484
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090047",
          "GARD:0015510",
          "MEDGEN:370188",
          "MESH:C567001",
          "NANDO:1200533",
          "OMIM:611147",
          "UMLS:C1970149"
        ],
        "synonyms": [
          "paroxysmal nonkinesigenic dyskinesia 2",
          "paroxysmal nonkinesigenic dyskinesia type 2",
          "PNKD2",
          "dystonia 20"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012629"
    },
    {
      "id": 24485,
      "label": "paroxysmal nonkinesigenic dyskinesia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24484
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090049",
          "GARD:0026355",
          "MEDGEN:1631383",
          "MedDRA:10065657",
          "MedDRA:10065658",
          "OMIM:118800",
          "UMLS:C4551506"
        ],
        "synonyms": [
          "PNKD paroxysmal dyskinesia",
          "PxMD-PNKD",
          "paroxysmal dyskinesia caused by mutation in PNKD",
          "paroxysmal nonkinesigenic dyskinesia 1",
          "paroxysmal nonkinesigenic dyskinesia type 1",
          "PNKD1",
          "choreoathetosis, familial paroxysmal",
          "choreoathetosis, nonkinesigenic",
          "dystonia 8",
          "mount-reback syndrome",
          "paroxysmal dystonic choreoathetosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700089"
    }
  ],
  "roots": [
    {
      "id": 16273,
      "label": "paroxysmal dyskinesia"
    }
  ]
}