{
  "id": 12381,
  "label": "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011261",
  "properties": {
    "xrefs": [
      "DOID:0112294",
      "GARD:0016993",
      "MEDGEN:355919",
      "MESH:C566515",
      "OMIM:602611",
      "Orphanet:163649",
      "SCTID:718766002",
      "UMLS:C1865134"
    ],
    "synonyms": [
      "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation",
      "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    }
  ]
}