{
  "id": 2864,
  "label": "spondylocostal dysostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000359",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 3140,
      "label": "vertebral column disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060564",
          "ICD9:724.9",
          "MEDGEN:52455",
          "MESH:D013122",
          "SCTID:699699005",
          "UMLS:C0037933",
          "icd11.foundation:1989556002"
        ],
        "synonyms": [
          "disease of spine",
          "disease of vertebral column",
          "disease or disorder of vertebral column",
          "disorder of vertebral column",
          "vertebral column disease",
          "vertebral column disease or disorder",
          "spinal disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the vertebral column."
      },
      "child_count": 15,
      "reference_id": "MONDO:0000812"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    }
  ],
  "children": [
    {
      "id": 8781,
      "label": "spondylocostal dysostosis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2864
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007389"
    },
    {
      "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"
    },
    {
      "id": 16573,
      "label": "autosomal dominant spondylocostal dysostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2864,
        2903
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015826"
    },
    {
      "id": 26420,
      "label": "spondylocostal dysostosis 7, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2864
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621523"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0981023"
    }
  ],
  "roots": [
    {
      "id": 3140,
      "label": "vertebral column disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    }
  ]
}