{
  "id": 13403,
  "label": "spondylocostal dysostosis 3, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012349",
  "properties": {
    "xrefs": [
      "DOID:0112361",
      "GARD:0004973",
      "MEDGEN:377871",
      "OMIM:609813",
      "UMLS:C1853296"
    ],
    "synonyms": [
      "LFNG autosomal recessive spondylocostal dysostosis",
      "autosomal recessive spondylocostal dysostosis caused by mutation in LFNG",
      "spondylocostal dysostosis 3, autosomal recessive",
      "SCDO3",
      "SCOD3",
      "spondylocostal dysostosis 3"
    ],
    "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 LFNG 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"
    }
  ]
}