{
  "id": 8958,
  "label": "exostoses, multiple, type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007586",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7164,
      "label": "hereditary multiple osteochondromas",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4304,
        16218,
        18958,
        21247
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0005508"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7164,
      "label": "hereditary multiple osteochondromas"
    }
  ]
}