{
  "id": 21478,
  "label": "otofaciocervical syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024532",
  "properties": {
    "xrefs": [
      "GARD:0016502",
      "MEDGEN:811516",
      "OMIM:166780",
      "UMLS:C3714941"
    ],
    "synonyms": [
      "OFC",
      "OTFCS",
      "otofaciocervical syndrome",
      "EYA1 otofaciocervical syndrome",
      "otofaciocervical syndrome 1",
      "otofaciocervical syndrome caused by mutation in EYA1",
      "OFC1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9474,
      "label": "otofaciocervical syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004169",
          "MEDGEN:322257",
          "MESH:C537074",
          "MESH:C563481",
          "OMIMPS:166780",
          "Orphanet:2792",
          "UMLS:C1833691"
        ],
        "synonyms": [
          "Fara Chlupackova syndrome",
          "Fara-Chlupackova syndrome",
          "OFC syndrome",
          "familial oto-facio-cervical dysmorphia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008163"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9474,
      "label": "otofaciocervical syndrome"
    }
  ]
}