{
  "id": 8610,
  "label": "diaphyseal medullary stenosis-bone malignancy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007205",
  "properties": {
    "xrefs": [
      "DOID:0080664",
      "GARD:0010072",
      "MEDGEN:350613",
      "NCIT:C122660",
      "OMIM:112250",
      "Orphanet:85182",
      "UMLS:C1862177"
    ],
    "synonyms": [
      "DMS-MFH",
      "Hardcastle syndrome",
      "Hardcastle's syndrome",
      "bone dysplasia-medullary fibrosarcoma syndrome",
      "diaphyseal medullary stenosis-bone malignancy syndrome",
      "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome",
      "BDMF",
      "DMSMFH",
      "bone dysplasia with malignant fibrous histiocytoma",
      "bone dysplasia with medullary fibrosarcoma",
      "diaphyseal medullary stenosis with malignant fibrous histiocytoma",
      "myopathy, limb-girdle, with bone fragility"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "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"
    },
    {
      "id": 24863,
      "label": "disorder of polyamine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24199
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026469"
        ],
        "definition": "An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process."
      },
      "child_count": 4,
      "reference_id": "MONDO:0800159"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    },
    {
      "id": 18958,
      "label": "bone neoplasm"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 24863,
      "label": "disorder of polyamine metabolism"
    }
  ]
}