{
  "id": 12375,
  "label": "mandibulofacial dysostosis-macroblepharon-macrostomia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011255",
  "properties": {
    "xrefs": [
      "GARD:0017547",
      "MEDGEN:355927",
      "MESH:C566520",
      "OMIM:602562",
      "Orphanet:357158",
      "UMLS:C1865181"
    ],
    "synonyms": [
      "macroblepharon-ectropion-hypertelorism-macrostomia syndrome",
      "Verloes-Lesenfants syndrome",
      "macroblepharon, ectropion, hypertelorism, and macrostomia",
      "mandibulofacial dysostosis with macroblepharon and macrostomia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16319,
      "label": "mandibulofacial dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019980",
          "ICD10CM:Q75.4",
          "MESH:D008342",
          "MedDRA:10051456",
          "Orphanet:155899",
          "icd11.foundation:470731247"
        ],
        "synonyms": [
          "bilateral and symmetric oto-mandibular dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)"
      },
      "child_count": 6,
      "reference_id": "MONDO:0015483"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16319,
      "label": "mandibulofacial dysostosis"
    }
  ]
}