{
  "id": 20324,
  "label": "congenital fibrosis of extraocular muscles type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021083",
  "properties": {
    "xrefs": [
      "DOID:0081015",
      "GARD:0025287",
      "MEDGEN:376943",
      "OMIM:135700",
      "UMLS:C1851102"
    ],
    "synonyms": [
      "CFEOM1",
      "KIF21A congenital fibrosis of extraocular muscles",
      "congenital fibrosis of extraocular muscles caused by mutation in KIF21A",
      "fibrosis of extraocular muscles, congenital, 1",
      "Feom1 locus",
      "blepharoptosis with absent eye movements",
      "fibrosis of extraocular muscles, congenital, 3B",
      "ophthalmoplegia, congenital"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene."
  },
  "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": 8980,
      "label": "congenital fibrosis of extraocular muscles",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3785,
        6517,
        16732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080143",
          "GARD:0012590",
          "ICD9:728.2",
          "MEDGEN:724506",
          "MESH:C580012",
          "NORD:997",
          "OMIMPS:135700",
          "Orphanet:45358",
          "SCTID:400946004",
          "UMLS:C1302995",
          "icd11.foundation:887449084"
        ],
        "synonyms": [
          "Congenital Fibrosis of the Extraocular Muscles",
          "FEOM",
          "congenital fibrosis of the extraocular muscles",
          "fibrosis of extraocular muscles, congenital",
          "fibrosis of extraocular muscles, congenital, type 1",
          "Tukel syndrome",
          "CFEOM1",
          "Feom1 locus",
          "blepharoptosis with absent eye movements",
          "fibrosis of extraocular muscles, congenital, 1",
          "fibrosis of extraocular muscles, congenital, 3B",
          "ophthalmoplegia, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0007614"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 8980,
      "label": "congenital fibrosis of extraocular muscles"
    }
  ]
}