{
  "id": 12336,
  "label": "osteocraniostenosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011215",
  "properties": {
    "xrefs": [
      "GARD:0003396",
      "MEDGEN:356331",
      "MESH:C537291",
      "OMIM:602361",
      "Orphanet:2763",
      "SCTID:722109008",
      "UMLS:C1865639",
      "icd11.foundation:539409723"
    ],
    "synonyms": [
      "Osteocraniosplenic syndrome",
      "gracile bone dysplasia",
      "osteocraniostenosis",
      "GCLEB",
      "skeletal dysplasia lethal with gracile bones"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026426"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death."
      },
      "child_count": 26,
      "reference_id": "MONDO:0800063"
    },
    {
      "id": 29335,
      "label": "FAM111A-related skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028174"
        ],
        "synonyms": [
          "FAM111A-related skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal dysplasia in which the cause of the disease is a variation in FAM111A gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:1060172"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder"
    },
    {
      "id": 29335,
      "label": "FAM111A-related skeletal dysplasia"
    }
  ]
}