{
  "id": 12045,
  "label": "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010912",
  "properties": {
    "xrefs": [
      "DOID:0081017",
      "GARD:0015321",
      "MEDGEN:412638",
      "MESH:C567572",
      "OMIM:600638",
      "UMLS:C2748801"
    ],
    "synonyms": [
      "TUBB3 congenital fibrosis of extraocular muscles",
      "congenital fibrosis of extraocular muscles caused by mutation in TUBB3",
      "fibrosis of extraocular muscles, congenital, 3A",
      "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",
      "CFEOM3A",
      "Feom3 locus"
    ],
    "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 TUBB3 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 23896,
      "label": "TUBB3-related tubulinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23895,
        24270
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100154"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8980,
      "label": "congenital fibrosis of extraocular muscles"
    },
    {
      "id": 23896,
      "label": "TUBB3-related tubulinopathy"
    }
  ]
}