{
  "id": 13845,
  "label": "childhood onset GLUT1 deficiency syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012805",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2762,
      "label": "GLUT1 deficiency syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082,
        23511,
        23787,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070560",
          "GARD:0022724",
          "MEDGEN:337833",
          "NANDO:1200799",
          "OMIMPS:606777",
          "UMLS:C1847501"
        ],
        "synonyms": [
          "GLUT1 deficiency syndrome",
          "GLUT1DS"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epileptic encephalopathy resulting from impaired glucose transport into the brain."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000188"
    },
    {
      "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": 17944,
      "label": "disorder of carbohydrate transmembrane transport and absorption",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021313",
          "MEDGEN:1842168",
          "Orphanet:309001",
          "UMLS:C5681069",
          "icd11.foundation:1315315105"
        ],
        "synonyms": [
          "disorder of carbohydrate absorption and transport"
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0017706"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2762,
      "label": "GLUT1 deficiency syndrome"
    },
    {
      "id": 16273,
      "label": "paroxysmal dyskinesia"
    },
    {
      "id": 17944,
      "label": "disorder of carbohydrate transmembrane transport and absorption"
    }
  ]
}