{
  "id": 24774,
  "label": "congenital trochlear nerve palsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700463",
  "properties": {
    "xrefs": [
      "GARD:0028047",
      "MEDGEN:1810147",
      "Orphanet:98686",
      "UMLS:C5680340"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 3391,
      "label": "fourth cranial nerve palsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4811,
        8425
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10869",
          "ICD9:378.53",
          "MEDGEN:75746",
          "SCTID:20610004",
          "UMLS:C0271375",
          "icd11.foundation:120848300"
        ],
        "synonyms": [
          "cranial nerve palsy of trochlear nerve",
          "fourth nerve palsy",
          "fourth or trochlear nerve palsy",
          "trochlear nerve cranial nerve palsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A cranial nerve palsy that involves the trochlear nerve."
      },
      "child_count": 2,
      "reference_id": "MONDO:0001146"
    }
  ],
  "children": [
    {
      "id": 8991,
      "label": "familial congenital palsy of trochlear nerve",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16052,
        24270,
        24774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010355",
          "MEDGEN:338185",
          "MESH:C565007",
          "OMIM:136480",
          "Orphanet:91498",
          "UMLS:C1850996"
        ],
        "synonyms": [
          "hereditary fourth cranial nerve palsy",
          "fourth cranial nerve palsy, familial congenital",
          "strabismus from Superior oblique palsy",
          "superior oblique oculomotor palsy, familial congenital",
          "trochlear nerve palsy, familial congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007626"
    }
  ],
  "roots": [
    {
      "id": 3391,
      "label": "fourth cranial nerve palsy"
    }
  ]
}