{
  "id": 4308,
  "label": "hyperostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002185",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 3151,
      "label": "bone remodeling disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080005"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A bone disease that results in formation or resorption abnormalities located in bone."
      },
      "child_count": 6,
      "reference_id": "MONDO:0000833"
    }
  ],
  "children": [
    {
      "id": 4304,
      "label": "exostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4308
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:203",
          "ICD9:726.91",
          "MEDGEN:257035",
          "NCIT:C3029",
          "SCTID:235231000119100",
          "SCTID:416189003",
          "UMLS:C1442903"
        ],
        "synonyms": [
          "bone osteophyte",
          "exostosis",
          "orbital exostosis",
          "swimmer's exostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Non-neoplastic overgrowth of bone."
      },
      "child_count": 3,
      "reference_id": "MONDO:0002181"
    },
    {
      "id": 7062,
      "label": "bone Paget disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4308,
        5714,
        25070
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5408",
          "EFO:0004261",
          "ICD10CM:M88",
          "MEDGEN:10493",
          "NCIT:C3292",
          "OMIMPS:167250",
          "Orphanet:280110",
          "SCTID:2089002",
          "UMLS:C0029401"
        ],
        "synonyms": [
          "Paget disease of bone",
          "Paget's bone disease",
          "Paget's disease of bone",
          "Paget's disease of the bone",
          "Pagets disease (bone)",
          "bone Paget disease",
          "bone Paget's disease",
          "osseous Paget's disease",
          "osteitis deformans",
          "Paget's disease",
          "familial Paget's disease of bone"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue."
      },
      "child_count": 15,
      "reference_id": "MONDO:0005382"
    },
    {
      "id": 8539,
      "label": "diffuse idiopathic skeletal hyperostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4308,
        5714,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6652",
          "EFO:0007236",
          "GARD:0000842",
          "ICD10CM:M48.1",
          "ICD9:721.6",
          "ICD9:733.99",
          "MEDGEN:5695",
          "MESH:D004057",
          "NCIT:C84671",
          "NORD:1053",
          "Orphanet:2206",
          "SCTID:31487001",
          "UMLS:C0020498"
        ],
        "synonyms": [
          "DISH",
          "Forestier's disease",
          "ankylosing vertebral hyperostosis",
          "diffuse idiopathic skeletal hyperostosis",
          "dish",
          "ankylosing vertebral hyperostosis with tylosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007127"
    },
    {
      "id": 8649,
      "label": "Caffey disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4308,
        4665,
        19477
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4257",
          "GARD:0001051",
          "ICD9:756.59",
          "MEDGEN:43781",
          "MESH:D006958",
          "NCIT:C118423",
          "OMIM:114000",
          "Orphanet:1310",
          "SCTID:24752008",
          "UMLS:C0020497"
        ],
        "synonyms": [
          "Caffey disease",
          "infantile cortical hyperostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007244"
    },
    {
      "id": 9113,
      "label": "autosomal dominant osteosclerosis, Worth type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4308,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080037",
          "GARD:0000390",
          "MEDGEN:140932",
          "OMIM:144750",
          "OMIM:607636",
          "Orphanet:2790",
          "SCTID:254131007",
          "UMLS:C0432273",
          "icd11.foundation:1038854228"
        ],
        "synonyms": [
          "Ostéosclérose autosomique dominante type Worth",
          "Worth syndrome",
          "Worth's syndrome",
          "endosteal hyperostosis, Worth type",
          "hyperostosis, endosteal",
          "VBCH2",
          "Van Buchem disease type 2",
          "Van Buchem disease, type 2",
          "endosteal hyperostosis, autosomal dominant",
          "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus",
          "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus",
          "osteosclerosis of the skull and enlarged mandible",
          "osteosclerosis, autosomal dominant",
          "osteosclerosis, autosomal dominant, Worth type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007764"
    },
    {
      "id": 10282,
      "label": "craniodiaphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4308,
        16306,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080032",
          "GARD:0001567",
          "ICD9:756.59",
          "MEDGEN:96080",
          "MESH:C562940",
          "NANDO:2201368",
          "NCIT:C131429",
          "OMIM:218300",
          "Orphanet:1513",
          "SCTID:205506004",
          "UMLS:C0410539",
          "icd11.foundation:505073582"
        ],
        "synonyms": [
          "Lionitis",
          "craniodiaphyseal dysplasia",
          "CDD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009031"
    },
    {
      "id": 10627,
      "label": "hyperostosis corticalis generalisata",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4308,
        18360
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009395"
    },
    {
      "id": 11696,
      "label": "X-linked calvarial hyperostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4308
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001058",
          "MEDGEN:1674665",
          "MESH:C537963",
          "OMIM:302030",
          "Orphanet:391327",
          "UMLS:C5190611"
        ],
        "synonyms": [
          "calvarial hyperostosis",
          "isolated hyperostosis of the calvarium"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010541"
    },
    {
      "id": 18056,
      "label": "sclerosteosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4308,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060251",
          "GARD:0004771",
          "ICD9:756.59",
          "MEDGEN:120530",
          "MESH:C537525",
          "NANDO:2201369",
          "NCIT:C131133",
          "OMIMPS:269500",
          "Orphanet:3152",
          "SCTID:17568006",
          "UMLS:C0265301",
          "icd11.foundation:371637416"
        ],
        "synonyms": [
          "cortical hyperostosis with syndactyly",
          "cortical hyperostosis-syndactyly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017838"
    }
  ],
  "roots": [
    {
      "id": 3151,
      "label": "bone remodeling disease"
    }
  ]
}