{
  "id": 25337,
  "label": "neuroocular syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0859193",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9514,
      "label": "benign paroxysmal tonic upgaze of childhood with ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        25337
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008206"
    },
    {
      "id": 26003,
      "label": "neuroocular syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25337
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027154",
          "MEDGEN:1863661",
          "OMIM:619539",
          "Orphanet:659904",
          "UMLS:C5925133"
        ],
        "synonyms": [
          "multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome"
        ],
        "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 neuroocular syndrome caused by a mutation in PRR12 gene. It encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0971007"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}