{
  "id": 16573,
  "label": "autosomal dominant spondylocostal dysostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015826",
  "properties": {
    "xrefs": [
      "GARD:0012806",
      "MEDGEN:902919",
      "Orphanet:1797",
      "SCTID:716232002",
      "UMLS:C4274761"
    ],
    "synonyms": [
      "autosomal dominant spondylocostal dysplasia",
      "spondylocostal dysostosis, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs."
  },
  "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"
    },
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2864,
      "label": "spondylocostal dysostosis"
    },
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    }
  ]
}