{
  "id": 9763,
  "label": "spondyloepiphyseal dysplasia congenita",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008471",
  "properties": {
    "xrefs": [
      "DOID:14789",
      "GARD:0004987",
      "ICD9:756.9",
      "MEDGEN:412530",
      "MESH:C535788",
      "MedDRA:10062920",
      "NANDO:2201348",
      "NORD:1733",
      "OMIM:183900",
      "Orphanet:94068",
      "SCTID:278713008",
      "UMLS:C2745959"
    ],
    "synonyms": [
      "SED congenita",
      "SEDC",
      "Spondyloepiphyseal Dysplasia, Congenital",
      "Spranger-Wiedemann disease",
      "spondyloepiphyseal dysplasia congenita",
      "spondyloepiphyseal dysplasia, congenital type",
      "congenital spondyloepiphyseal dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20997,
      "label": "type 2 collagenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6394,
        18360,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019186",
          "HGNC:2200",
          "MEDGEN:419326",
          "MESH:C535964",
          "NANDO:2201016",
          "Orphanet:93421",
          "UMLS:C2931073"
        ],
        "synonyms": [
          "COL2A1 disease or disorder",
          "collagenopathy type 2 alpha 1",
          "disease or disorder caused by mutation in COL2A1",
          "COL2A1",
          "cartilage collagen",
          "collagen II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene."
      },
      "child_count": 56,
      "reference_id": "MONDO:0022800"
    },
    {
      "id": 24324,
      "label": "COL2A1-related spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206,
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027287"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes."
      },
      "child_count": 12,
      "reference_id": "MONDO:0100602"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 20997,
      "label": "type 2 collagenopathy"
    },
    {
      "id": 24324,
      "label": "COL2A1-related spondyloepiphyseal dysplasia"
    }
  ]
}