{
  "id": 8781,
  "label": "spondylocostal dysostosis 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007389",
  "properties": {
    "xrefs": [
      "DOID:0112363",
      "GARD:0024556",
      "MEDGEN:901825",
      "NORD:1915",
      "OMIM:122600",
      "UMLS:C4083048"
    ],
    "synonyms": [
      "SCDO5",
      "TBX6 spondylocostal dysostosis",
      "costovertebral segmentation anomalies",
      "scoliosis, congenital, with or without rib anomalies",
      "spondylocostal dysostosis 5",
      "spondylocostal dysostosis caused by mutation in TBX6",
      "spondylocostal dysostosis type 5",
      "spondylothoracic dysostosis",
      "Spondylothoracic Dysplasia",
      "polydysspondyly",
      "spondylocostal dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2864,
      "label": "spondylocostal dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3140,
        5714,
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050568",
          "GARD:0012174",
          "MEDGEN:82707",
          "MESH:C537565",
          "NCIT:C125598",
          "NORD:1308",
          "OMIMPS:277300",
          "UMLS:C0265343"
        ],
        "synonyms": [
          "Spondylocostal Dysplasia",
          "costovertebral dysplasia",
          "spondylocostal dysostosis",
          "spondylocostal dysplasia",
          "Jarcho-Levin syndrome",
          "SCD",
          "SCDO"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)."
      },
      "child_count": 12,
      "reference_id": "MONDO:0000359"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2864,
      "label": "spondylocostal dysostosis"
    }
  ]
}