{
  "id": 9811,
  "label": "brachydactyly-elbow wrist dysplasia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008520",
  "properties": {
    "xrefs": [
      "GARD:0000966",
      "MEDGEN:396103",
      "MESH:C566090",
      "OMIM:186550",
      "Orphanet:1275",
      "SCTID:764437006",
      "UMLS:C1861313"
    ],
    "synonyms": [
      "Liebenberg syndrome",
      "brachydactyly-joint dysplasia syndrome",
      "LBNBG",
      "LIEBENBERG syndrome",
      "brachydactyly elbow wrist dysplasia",
      "brachydactyly with Joint dysplasia",
      "brachydactyly with joint dysplasia",
      "carpal synostosis with dysplastic elbow joints and brachydactyly",
      "synostosis, carpal, with dysplastic elbow joints and brachydactyly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported."
  },
  "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": 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": [],
  "roots": [
    {
      "id": 7153,
      "label": "bone development disease"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}