{
  "id": 16273,
  "label": "paroxysmal dyskinesia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015427",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16691,
      "label": "paroxysmal dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19719
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0016058"
    }
  ],
  "children": [
    {
      "id": 12300,
      "label": "infantile convulsions and choreoathetosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16273,
        16428,
        24281
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008553",
          "MEDGEN:356123",
          "MESH:C535522",
          "NCIT:C126650",
          "OMIM:602066",
          "Orphanet:31709",
          "SCTID:715534008",
          "UMLS:C1865926"
        ],
        "synonyms": [
          "ICCA syndrome",
          "PKD/IC",
          "infantile convulsions and choreoathetosis",
          "paroxysmal kinesigenic dyskinesia and infantile convulsions",
          "ICCA",
          "Icca syndrome",
          "convulsions, familial infantile, with paroxysmal choreoathetosis",
          "convulsions, infantile, with paroxysmal choreoathetosis, familial",
          "infantile convulsions and paroxysmal choreoathetosis, familial",
          "paroxysmal kinesigenic dyskinesia with infantile convulsions"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011178"
    },
    {
      "id": 13845,
      "label": "childhood onset GLUT1 deficiency syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2762,
        16273,
        17944
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090045",
          "GARD:0010541",
          "MEDGEN:330866",
          "MESH:C564288",
          "NANDO:1200531",
          "OMIM:612126",
          "Orphanet:98811",
          "SCTID:724072002",
          "UMLS:C1842534"
        ],
        "synonyms": [
          "DYT18",
          "GLUT1 deficiency syndrome 2, childhood onset",
          "GLUT1 deficiency syndrome type 2",
          "PED",
          "PxMD-SLC2A1",
          "childhood onset GLUT1 deficiency syndrome 2",
          "childhood onset GLUT1 deficiency syndrome type 2",
          "dystonia 18",
          "paroxysmal exercise-induced dystonia",
          "ped",
          "DYT-SLC2A1",
          "GLUT1 deficiency syndrome 2",
          "GLUT1DS2",
          "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia",
          "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia",
          "paroxysmal exertion-induced dyskinesia",
          "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia",
          "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia",
          "ped with or without epilepsy and/or hemolytic Anaemia",
          "ped with or without epilepsy and/or hemolytic Anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012805"
    },
    {
      "id": 23291,
      "label": "episodic kinesigenic dyskinesia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16273
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008721",
          "MEDGEN:358268",
          "OMIMPS:128200",
          "Orphanet:98809",
          "UMLS:C1868682"
        ],
        "synonyms": [
          "EKD",
          "familial PKD",
          "familial paroxysmal kinesigenic dyskinesia",
          "paroxysmal kinesigenic choreathetosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements."
      },
      "child_count": 3,
      "reference_id": "MONDO:0044202"
    },
    {
      "id": 23777,
      "label": "ECHS1-related paroxysmal dyskinesia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16273
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100019"
    },
    {
      "id": 24484,
      "label": "paroxysmal nonkinesigenic dyskinesia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16273
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700088"
    }
  ],
  "roots": [
    {
      "id": 16691,
      "label": "paroxysmal dystonia"
    }
  ]
}