{
  "id": 10848,
  "label": "Desbuquois dysplasia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009629",
  "properties": {
    "xrefs": [
      "GARD:0016451",
      "MEDGEN:860583",
      "OMIM:251450",
      "UMLS:C4012146"
    ],
    "synonyms": [
      "CANT1 Desbuquois dysplasia",
      "Desbuquois dysplasia 1",
      "Desbuquois dysplasia caused by mutation in CANT1",
      "Desbuquois dysplasia type 1",
      "DBQD1",
      "Desbuquois dysplasia, Kim variant",
      "desbuquois syndrome",
      "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16272,
      "label": "Desbuquois dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060462",
          "GARD:0001818",
          "ICD9:756.9",
          "MEDGEN:98479",
          "NCIT:C124056",
          "OMIMPS:251450",
          "Orphanet:1425",
          "SCTID:254099008",
          "UMLS:C0432242"
        ],
        "synonyms": [
          "DBQD",
          "Desbuquois dysplasia",
          "desbuquois syndrome",
          "micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015426"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16272,
      "label": "Desbuquois dysplasia"
    }
  ]
}