{
  "id": 15537,
  "label": "fibrosis of extraocular muscles, congenital, 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014538",
  "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."
  },
  "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"
    },
    {
      "id": 9644,
      "label": "congenital ptosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3108
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060261",
          "GARD:0016798",
          "HP:0007970",
          "ICD9:743.61",
          "MEDGEN:357987",
          "MESH:C566737",
          "MedDRA:10015996",
          "NCIT:C27049",
          "Orphanet:91411",
          "SCTID:268163008",
          "UMLS:C1867438"
        ],
        "synonyms": [
          "congenital eyelid ptosis",
          "congenital ptosis (disease)",
          "ptosis, hereditary congenital 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Congenital ptosis is characterized by superior eyelid drop present at birth."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008340"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 8980,
      "label": "congenital fibrosis of extraocular muscles"
    },
    {
      "id": 9644,
      "label": "congenital ptosis"
    }
  ]
}