{
  "id": 8991,
  "label": "familial congenital palsy of trochlear nerve",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007626",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16052,
      "label": "nuclear oculomotor paralysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3541
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:100932"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0015083"
    },
    {
      "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"
    },
    {
      "id": 24774,
      "label": "congenital trochlear nerve palsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3391
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0700463"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16052,
      "label": "nuclear oculomotor paralysis"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 24774,
      "label": "congenital trochlear nerve palsy"
    }
  ]
}