{
  "id": 14399,
  "label": "spondylocostal dysostosis 4, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013366",
  "properties": {
    "xrefs": [
      "DOID:0112364",
      "GARD:0004976",
      "MEDGEN:462292",
      "OMIM:613686",
      "UMLS:C3150942"
    ],
    "synonyms": [
      "HES7 autosomal recessive spondylocostal dysostosis",
      "Hes7 autosomal recessive spondylocostal dysostosis",
      "autosomal recessive spondylocostal dysostosis caused by mutation in HES7",
      "autosomal recessive spondylocostal dysostosis caused by mutation in Hes7",
      "spondylocostal dysostosis 4, autosomal recessive",
      "SCDO4",
      "spondylocostal dysostosis 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11362,
      "label": "autosomal recessive spondylocostal dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2864,
        7611,
        17976
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006798",
          "ICD9:756.9",
          "MESH:C535781",
          "Orphanet:2311",
          "SCTID:61367005"
        ],
        "synonyms": [
          "Jarcho-Levin syndrome",
          "spondylocostal dysostosis, autosomal recessive",
          "SCDO1",
          "costovertebral dysplasia",
          "spondylocostal dysostosis 1, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine."
      },
      "child_count": 15,
      "reference_id": "MONDO:0010180"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11362,
      "label": "autosomal recessive spondylocostal dysostosis"
    }
  ]
}