{
  "id": 10627,
  "label": "hyperostosis corticalis generalisata",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009395",
  "properties": {
    "xrefs": [
      "DOID:0080036",
      "GARD:0002833",
      "MEDGEN:98484",
      "NCIT:C131812",
      "OMIM:239100",
      "Orphanet:3416",
      "SCTID:59763006",
      "UMLS:C0432272",
      "icd11.foundation:241514592"
    ],
    "synonyms": [
      "Van Buchem disease",
      "endosteal hyperostosis",
      "hyperostosis corticalis generalisata",
      "hyperphosphatasemia tarda",
      "van Buchem disease",
      "van Buchem disease type 1",
      "SOST-related sclerosing bone dysplasia",
      "VAN Buchem disease",
      "VBCH",
      "endosteal hyperostosis autosomal recessive",
      "endosteal hyperostosis, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4308,
      "label": "hyperostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:205",
          "ICD10CM:M89.3",
          "ICD9:733.99",
          "MEDGEN:9366",
          "MESH:D015576",
          "NCIT:C34712",
          "SCTID:203514008",
          "UMLS:C0020492"
        ],
        "synonyms": [
          "bone hypertrophy",
          "hypertrophy of bone",
          "hypertrophy of bone (morphologic abnormality)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Excessive thickening of bone."
      },
      "child_count": 9,
      "reference_id": "MONDO:0002185"
    },
    {
      "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": 4308,
      "label": "hyperostosis"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}