{
  "id": 16272,
  "label": "Desbuquois dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015426",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    }
  ],
  "children": [
    {
      "id": 10848,
      "label": "Desbuquois dysplasia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16272
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009629"
    },
    {
      "id": 15345,
      "label": "Desbuquois dysplasia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16272,
        29253
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016466",
          "MEDGEN:862731",
          "OMIM:615777",
          "UMLS:C4014294"
        ],
        "synonyms": [
          "Baratela-Scott syndrome",
          "Desbuquois dysplasia 2",
          "Desbuquois dysplasia caused by mutation in XYLT1",
          "Desbuquois dysplasia type 2",
          "XYLT1 Desbuquois dysplasia",
          "DBQD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014343"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    }
  ]
}