{
  "id": 25024,
  "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800436",
  "properties": {
    "xrefs": [
      "DOID:0081124",
      "GARD:0001210",
      "MEDGEN:1808104",
      "MESH:C565862",
      "OMIM:213980",
      "Orphanet:1394",
      "SCTID:720635002",
      "UMLS:C5677021"
    ],
    "synonyms": [
      "CFSMR1",
      "cerebrofaciothoracic dysplasia",
      "pascual-Castroviejo syndrome type 1",
      "CFSMR",
      "cerebro facio thoracic dysplasia",
      "pascual-Castroviejo syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 22235,
      "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081072",
          "OMIMPS:213980"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0031329"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 22235,
      "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome"
    }
  ]
}