{
  "id": 11281,
  "label": "spondylocarpotarsal synostosis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010094",
  "properties": {
    "xrefs": [
      "DOID:0090116",
      "GARD:0004974",
      "ICD9:758.89",
      "MEDGEN:341339",
      "MESH:C535780",
      "OMIM:272460",
      "Orphanet:3275",
      "SCTID:702351004",
      "UMLS:C1848934"
    ],
    "synonyms": [
      "SCT",
      "Synspondylism",
      "spondylocarpotarsal syndrome",
      "spondylocarpotarsal synostosis",
      "spondylocarpotarsal synostosis syndrome",
      "vertebral fusion with carpal coalition",
      "Synspondylism congenital",
      "Synspondylism, congenital",
      "scoliosis, congenital with unilateral unsegmented bar",
      "scoliosis, congenital, with unilateral unsegmented Bar"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7153,
      "label": "bone development disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7061,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080006",
          "EFO:0005541",
          "MEDGEN:2309",
          "SCTID:371521007",
          "UMLS:C0005941"
        ],
        "synonyms": [
          "bone development disease",
          "bone development disease or disorder",
          "disease of bone development",
          "disease or disorder of bone development",
          "disorder of bone development"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the bone development."
      },
      "child_count": 18,
      "reference_id": "MONDO:0005497"
    },
    {
      "id": 19470,
      "label": "filamin-related bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019190",
          "MEDGEN:1842239",
          "Orphanet:93425",
          "UMLS:C5680280"
        ],
        "synonyms": [
          "bone filaminopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0019690"
    },
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019193",
          "MEDGEN:1843363",
          "Orphanet:93434",
          "UMLS:C4736216",
          "icd11.foundation:329165933"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0019694"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7153,
      "label": "bone development disease"
    },
    {
      "id": 19470,
      "label": "filamin-related bone disorder"
    },
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia"
    }
  ]
}