{
  "id": 17250,
  "label": "infantile myofibromatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016824",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5278,
      "label": "benign perivascular tumor",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4659,
        6887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5238",
          "MEDGEN:231437",
          "NCIT:C6529",
          "UMLS:C1332532"
        ],
        "synonyms": [
          "benign Pericytic neoplasm",
          "benign Pericytic tumor",
          "benign Pericytic tumour",
          "benign pericytic neoplasm",
          "benign perivascular neoplasm",
          "benign perivascular tumor",
          "pericytic neoplasm, benign"
        ],
        "definition": "A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels."
      },
      "child_count": 8,
      "reference_id": "MONDO:0003342"
    },
    {
      "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": 23337,
      "label": "benign soft tissue neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3054,
        7941
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICDO:8800/0",
          "MEDGEN:83151",
          "NCIT:C4242",
          "SCTID:92069005",
          "UMLS:C0334450"
        ],
        "synonyms": [
          "benign neoplasm of soft tissue",
          "benign neoplasm of the soft tissue",
          "benign soft tissue neoplasm",
          "benign soft tissue tumor",
          "benign soft tissue tumour",
          "benign tumor of soft tissue",
          "benign tumor of the soft tissue",
          "benign tumour of soft tissue",
          "benign tumour of the soft tissue",
          "soft tissue neoplasm, benign"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A non-metastasizing neoplasm that arises from the soft tissue."
      },
      "child_count": 20,
      "reference_id": "MONDO:0044335"
    }
  ],
  "children": [
    {
      "id": 10470,
      "label": "myofibromatosis, infantile, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17250
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009227"
    },
    {
      "id": 15130,
      "label": "myofibromatosis, infantile, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17250
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070667",
          "GARD:0015939",
          "MEDGEN:815414",
          "NCIT:C176944",
          "OMIM:615293",
          "UMLS:C3809084"
        ],
        "synonyms": [
          "NOTCH3 myofibromatosis",
          "myofibromatosis caused by mutation in NOTCH3",
          "myofibromatosis, infantile 2",
          "myofibromatosis, infantile, 2",
          "myofibromatosis, infantile, type 2",
          "IMF2"
        ],
        "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 NOTCH3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014122"
    }
  ],
  "roots": [
    {
      "id": 5278,
      "label": "benign perivascular tumor"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 23337,
      "label": "benign soft tissue neoplasm"
    }
  ]
}