{
  "id": 7164,
  "label": "hereditary multiple osteochondromas",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005508",
  "properties": {
    "xrefs": [
      "DOID:206",
      "GARD:0007035",
      "MEDGEN:4612",
      "MESH:D005097",
      "NANDO:2200049",
      "NANDO:2201014",
      "NANDO:2201015",
      "NCIT:C5183",
      "NORD:1233",
      "OMIMPS:133700",
      "Orphanet:321",
      "SCTID:254044004",
      "SCTID:716742001",
      "UMLS:C0015306",
      "icd11.foundation:146330302",
      "icd11.foundation:1578364807"
    ],
    "synonyms": [
      "Bessel-Hagen disease",
      "exostoses, multiple",
      "multiple cartilaginous exostoses",
      "osteochondromatosis syndrome",
      "osteochondromatosis syndrome (disorder) [ambiguous]",
      "hereditary multiple exostoses 1",
      "hereditary multiple exostoses 2",
      "hereditary multiple exostoses 3",
      "EXT",
      "HMO",
      "hereditary multiple exostoses",
      "hereditary multiple exostosis",
      "multiple exostoses"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 18958,
      "label": "bone neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7061,
        20678
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003820",
          "GARD:0018892",
          "ICD10CM:C40-C41",
          "MEDGEN:488993",
          "NCIT:C9343",
          "ONCOTREE:BONE",
          "Orphanet:68411",
          "UMLS:C2732838"
        ],
        "synonyms": [
          "bone neoplasm",
          "bone neoplasms",
          "bone tissue neoplasm",
          "bone tissue tumor",
          "bone tissue tumour",
          "bone tumor",
          "bone tumors",
          "bone tumour",
          "bone tumours",
          "neoplasm of bone",
          "neoplasm of bone tissue",
          "neoplasm of the bone",
          "osseous neoplasm",
          "osseous tumor",
          "osseous tumour",
          "tumor of bone",
          "tumor of bone tissue",
          "tumor of the bone",
          "tumour of bone",
          "tumour of bone tissue",
          "tumour of the bone",
          "primary bone cancer",
          "primary malignant neoplasm of bone",
          "rare bone tumor",
          "rare bone tumour"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage."
      },
      "child_count": 40,
      "reference_id": "MONDO:0019060"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    }
  ],
  "children": [
    {
      "id": 8957,
      "label": "exostoses, multiple, type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7164
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002204",
          "OMIM:133700"
        ],
        "synonyms": [
          "EXT1 exostoses, multiple",
          "exostoses, multiple caused by mutation in EXT1",
          "exostoses, multiple, type 1",
          "EXT",
          "diaphyseal Aclasis",
          "exostoses, multiple, type I",
          "multiple cartilaginous exostoses",
          "multiple osteochondromas",
          "osteochondromatosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007585"
    },
    {
      "id": 8958,
      "label": "exostoses, multiple, type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7164
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002205",
          "MEDGEN:377018",
          "NCIT:C18252",
          "OMIM:133701",
          "UMLS:C1851413"
        ],
        "synonyms": [
          "EXT2 Gene",
          "EXT2 exostoses, multiple",
          "exostoses (Multiple) 2 Gene",
          "exostoses, multiple caused by mutation in EXT2",
          "exostoses, multiple, type 2",
          "Ext2",
          "exostoses, multiple, type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007586"
    },
    {
      "id": 11981,
      "label": "exostoses, multiple, type III",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7164
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002206",
          "MEDGEN:333090",
          "MESH:C563975",
          "OMIM:600209",
          "UMLS:C1838420"
        ],
        "synonyms": [
          "EXT3",
          "exostoses, multiple, type III",
          "exostoses, multiple, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010846"
    }
  ],
  "roots": [
    {
      "id": 4304,
      "label": "exostosis"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 18958,
      "label": "bone neoplasm"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}