{
  "id": 17537,
  "label": "Bruck syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017195",
  "properties": {
    "xrefs": [
      "DOID:0060231",
      "GARD:0001029",
      "ICD9:733.99",
      "MEDGEN:609420",
      "MedDRA:10063718",
      "OMIMPS:259450",
      "Orphanet:2771",
      "SCTID:254113006",
      "UMLS:C0432253",
      "icd11.foundation:1783996418"
    ],
    "synonyms": [
      "osteogenesis imperfecta-congenital joint contractures syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 11015,
      "label": "Bruck syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17537
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024696",
          "MEDGEN:342431",
          "OMIM:259450",
          "UMLS:C1850168"
        ],
        "synonyms": [
          "Bruck syndrome 1",
          "Bruck syndrome caused by mutation in FKBP10",
          "Bruck syndrome type 1",
          "FKBP10 Bruck syndrome",
          "arthrogryposis-like disorder",
          "BRKS1",
          "Kuskokwim disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009806"
    },
    {
      "id": 13278,
      "label": "Bruck syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17537,
        24803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010023",
          "MEDGEN:373129",
          "MESH:C537407",
          "OMIM:609220",
          "UMLS:C1836602"
        ],
        "synonyms": [
          "Bruck syndrome 2",
          "Bruck syndrome caused by mutation in PLOD2",
          "Bruck syndrome type 2",
          "PLOD2 Bruck syndrome",
          "BRKS2",
          "osteogenesis imperfecta with congenital Joint contractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012217"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}