{
  "id": 10470,
  "label": "myofibromatosis, infantile, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009227",
  "properties": {
    "xrefs": [
      "DOID:0070666",
      "GARD:0024654",
      "ICD9:756.9",
      "MEDGEN:1632352",
      "MESH:C562978",
      "NCIT:C176943",
      "OMIM:228550",
      "SCTID:254146000",
      "UMLS:C4551572"
    ],
    "synonyms": [
      "PDGFRB myofibromatosis",
      "myofibromatosis caused by mutation in PDGFRB",
      "myofibromatosis, infantile, 1",
      "myofibromatosis, infantile, type 1",
      "IMF1",
      "fibromatosis, congenital generalised",
      "fibromatosis, congenital generalized",
      "myofibromatosis, juvenile"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17250,
      "label": "infantile myofibromatosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5278,
        21247,
        23337
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080109",
          "GARD:0002998",
          "ICDO:8824/1",
          "MEDGEN:140933",
          "MESH:D018224",
          "NCIT:C3742",
          "NORD:1301",
          "OMIMPS:228550",
          "ONCOTREE:IMS",
          "Orphanet:2591",
          "UMLS:C0432284"
        ],
        "synonyms": [
          "infantile hemangiopericytoma",
          "infantile myofibromatosis",
          "multicentric myofibromatosis",
          "myofibromatosis",
          "IMS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016824"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17250,
      "label": "infantile myofibromatosis"
    }
  ]
}