{
  "id": 8980,
  "label": "congenital fibrosis of extraocular muscles",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007614",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 3785,
      "label": "ocular motility disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5469
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1279",
          "EFO:1001990",
          "ICD9:378.9",
          "MEDGEN:14457",
          "SCTID:45030009",
          "UMLS:C0028850"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0001584"
    },
    {
      "id": 6517,
      "label": "myopathy of extraocular muscle",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2924,
        7023,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:929",
          "GARD:0024100",
          "ICD10CM:H05.82",
          "ICD9:376.82",
          "MEDGEN:509895",
          "SCTID:57130002",
          "UMLS:C0155286"
        ],
        "synonyms": [
          "extra-ocular muscle myopathy",
          "myopathy of extra-ocular muscle",
          "myopathy of extraocular muscles"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A myopathy that involves the extra-ocular muscle."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004746"
    },
    {
      "id": 16732,
      "label": "progressive muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020360",
          "MEDGEN:1633060",
          "Orphanet:206644",
          "UMLS:C4551827"
        ],
        "synonyms": [
          "progressive muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0016106"
    }
  ],
  "children": [
    {
      "id": 12045,
      "label": "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8980,
        23896
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010912"
    },
    {
      "id": 12303,
      "label": "fibrosis of extraocular muscles, congenital, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        8980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081016",
          "GARD:0015341",
          "MEDGEN:356119",
          "MESH:C566587",
          "OMIM:602078",
          "UMLS:C1865915"
        ],
        "synonyms": [
          "PHOX2A congenital fibrosis of extraocular muscles",
          "congenital fibrosis of extraocular muscles caused by mutation in PHOX2A",
          "fibrosis of extraocular muscles, congenital, 2",
          "fibrosis of extraocular muscles, congenital, type 2",
          "CFEOM2",
          "Feom2 locus",
          "fibrosis of extraocular muscles, congenital, autosomal recessive"
        ],
        "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 PHOX2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011181"
    },
    {
      "id": 13321,
      "label": "fibrosis of extraocular muscles, congenital, 3c",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        8980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081019",
          "GARD:0015459",
          "MEDGEN:412956",
          "MESH:C567666",
          "OMIM:609384",
          "UMLS:C2750404"
        ],
        "synonyms": [
          "CFEOM3C",
          "Feom4 locus",
          "fibrosis of extraocular muscles, congenital, 3C"
        ],
        "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": 0,
      "reference_id": "MONDO:0012262"
    },
    {
      "id": 13329,
      "label": "Tukel syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081021",
          "GARD:0009814",
          "MEDGEN:332153",
          "MESH:C536925",
          "OMIM:609428",
          "UMLS:C1836217",
          "icd11.foundation:2132105652"
        ],
        "synonyms": [
          "Tukel syndrome",
          "Cfeom-U",
          "congenital extraocular muscle fibrosis with ulnar hand anomalies",
          "fibrosis of extraocular muscles, congenital, 4",
          "fibrosis of extraocular muscles, congenital, with ulnar hand anomalies"
        ],
        "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": 0,
      "reference_id": "MONDO:0012270"
    },
    {
      "id": 13366,
      "label": "fibrosis of extraocular muscles, congenital, with synergistic divergence",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015466",
          "MEDGEN:351285",
          "MESH:C566508",
          "OMIM:609612",
          "UMLS:C1865040"
        ],
        "synonyms": [
          "fibrosis of extraocular muscles, congenital, with synergistic divergence",
          "congenital fibrosis syndrome with synergistic divergence",
          "external ophthalmoplegia with synergistic divergence",
          "external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation"
        ],
        "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": 0,
      "reference_id": "MONDO:0012310"
    },
    {
      "id": 15537,
      "label": "fibrosis of extraocular muscles, congenital, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        8980,
        9644
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081020",
          "GARD:0018164",
          "MEDGEN:863989",
          "OMIM:616219",
          "UMLS:C4015552"
        ],
        "synonyms": [
          "COL25A1 congenital fibrosis of extraocular muscles",
          "congenital fibrosis of extraocular muscles caused by mutation in COL25A1",
          "fibrosis of extraocular muscles, congenital, 5",
          "fibrosis of extraocular muscles, congenital, type 5",
          "CFEOM5"
        ],
        "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 COL25A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014538"
    },
    {
      "id": 20324,
      "label": "congenital fibrosis of extraocular muscles type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        8980
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021083"
    },
    {
      "id": 24886,
      "label": "fibrosis of extraocular muscles, congenital, 3b",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8980
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026483",
          "MEDGEN:416468",
          "UMLS:C2751105"
        ],
        "synonyms": [
          "CFEOM3B"
        ],
        "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": 0,
      "reference_id": "MONDO:0800209"
    }
  ],
  "roots": [
    {
      "id": 3785,
      "label": "ocular motility disease"
    },
    {
      "id": 6517,
      "label": "myopathy of extraocular muscle"
    },
    {
      "id": 16732,
      "label": "progressive muscular dystrophy"
    }
  ]
}