{
  "id": 13602,
  "label": "cerebrooculofacioskeletal syndrome 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012554",
  "properties": {
    "xrefs": [
      "DOID:0080914",
      "GARD:0015498",
      "MEDGEN:342798",
      "MESH:C565184",
      "NCIT:C173104",
      "OMIM:610758",
      "UMLS:C1853100"
    ],
    "synonyms": [
      "COFS syndrome caused by mutation in ERCC1",
      "COFS4",
      "ERCC1 COFS syndrome",
      "cerebrooculofacioskeletal syndrome 4",
      "cerebrooculofacioskeletal syndrome type 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10189,
      "label": "COFS syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16704,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080910",
          "GARD:0006027",
          "MEDGEN:1762238",
          "NCIT:C3817",
          "NORD:913",
          "OMIMPS:214150",
          "Orphanet:1466",
          "UMLS:C5399761"
        ],
        "synonyms": [
          "COFS",
          "Cerebro Oculo Facio Skeletal Syndrome",
          "Pena-Shokeir syndrome type 2",
          "cerebro-oculo-facio-skeletal syndrome",
          "cerebrooculofacioskeletal syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement."
      },
      "child_count": 15,
      "reference_id": "MONDO:0008926"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10189,
      "label": "COFS syndrome"
    }
  ]
}