{
  "id": 9514,
  "label": "benign paroxysmal tonic upgaze of childhood with ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008206",
  "properties": {
    "xrefs": [
      "GARD:0004176",
      "MEDGEN:401473",
      "MESH:C566817",
      "OMIM:168885",
      "Orphanet:1179",
      "SCTID:763127004",
      "UMLS:C1868576"
    ],
    "synonyms": [
      "Ouvrier-Billson syndrome",
      "neuroocular syndrome 2, paroxysmal type",
      "Ouvrier Billson syndrome",
      "paroxysmal tonic upgaze, benign childhood, with ataxia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7073,
      "label": "movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:480",
          "EFO:0004280",
          "ICD9:333.90",
          "ICD9:333.99",
          "MEDGEN:10113",
          "MESH:D009069",
          "NCIT:C116757",
          "SCTID:60342002",
          "UMLS:C0026650"
        ],
        "synonyms": [
          "movement disease",
          "movement disorder",
          "movement disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."
      },
      "child_count": 54,
      "reference_id": "MONDO:0005395"
    },
    {
      "id": 25337,
      "label": "neuroocular syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1790414",
          "OMIMPS:619539",
          "UMLS:C5551362"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0859193"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 25337,
      "label": "neuroocular syndrome"
    }
  ]
}