{
  "id": 12140,
  "label": "pleuropulmonary blastoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011014",
  "properties": {
    "xrefs": [
      "DOID:4769",
      "EFO:0009052",
      "GARD:0008757",
      "ICD9:162.9",
      "ICDO:8973/3",
      "MEDGEN:266105",
      "MESH:C537516",
      "NANDO:2200080",
      "NCIT:C5669",
      "OMIM:601200",
      "ONCOTREE:PPB",
      "Orphanet:64742",
      "SCTID:707670009",
      "UMLS:C1266144"
    ],
    "synonyms": [
      "childhood pulmonary blastoma",
      "paediatric pulmonary blastoma",
      "pediatric pulmonary blastoma",
      "pleuropulmonary blastoma",
      "pleuropulmonary blastoma (morphologic abnormality)",
      "pulmonary blastoma of childhood",
      "PPB",
      "PPB familial tumor and dysplasia syndrome",
      "PPB familial tumour and dysplasia syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7531,
      "label": "pulmonary blastoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7213,
        7822
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4765",
          "EFO:0007458",
          "GARD:0018864",
          "ICD9:162.9",
          "ICDO:8972/3",
          "MEDGEN:61645",
          "MESH:D018202",
          "NCIT:C3732",
          "Orphanet:64741",
          "SCTID:189815007",
          "UMLS:C0206629"
        ],
        "synonyms": [
          "Pneumoblastoma",
          "blastoma of lung",
          "blastoma of the lung",
          "lung blastoma",
          "pulmonary blastoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic."
      },
      "child_count": 6,
      "reference_id": "MONDO:0005933"
    },
    {
      "id": 8005,
      "label": "childhood malignant neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6733,
        20320
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000654",
          "MEDGEN:82962",
          "NCIT:C4005",
          "UMLS:C0278704"
        ],
        "synonyms": [
          "childhood cancer",
          "childhood malignant neoplasm",
          "childhood neoplasm, malignant",
          "malignant childhood neoplasm",
          "malignant childhood tumor",
          "malignant childhood tumour",
          "malignant paediatric neoplasm",
          "malignant paediatric tumour",
          "malignant pediatric neoplasm",
          "malignant pediatric tumor",
          "paediatric cancer",
          "pediatric cancer",
          "malignant neoplasm"
        ],
        "definition": "A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor)."
      },
      "child_count": 60,
      "reference_id": "MONDO:0006517"
    },
    {
      "id": 23957,
      "label": "DICER1-related tumor predisposition",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081063",
          "GARD:0010734",
          "ICD9:199.1",
          "MEDGEN:825667",
          "NCIT:C123317",
          "Orphanet:284343",
          "SCTID:702411003",
          "UMLS:C3839822"
        ],
        "synonyms": [
          "DICER1 syndrome",
          "PPB familial tumour susceptibility syndrome",
          "PPBFTDS",
          "pleuro-pulmonary blastoma familial tumour susceptibility syndrome",
          "pleuropulmonary blastoma familial tumour susceptibility syndrome",
          "DICER1-related pleuropulmonary blastoma",
          "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100216"
    }
  ],
  "children": [
    {
      "id": 17612,
      "label": "fetal lung interstitial tumor",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12140
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021118",
          "MEDGEN:1830091",
          "NCIT:C190105",
          "Orphanet:284362",
          "UMLS:C5679952"
        ],
        "synonyms": [
          "FLIT",
          "flit",
          "immature interstitial mesenchymal tumor",
          "immature interstitial mesenchymal tumour"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017289"
    },
    {
      "id": 19997,
      "label": "pleuropulmonary blastoma type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12140
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019715",
          "ICD9:162.9",
          "MEDGEN:318288",
          "NCIT:C45626",
          "Orphanet:99933",
          "SCTID:707671008",
          "UMLS:C1710501"
        ],
        "synonyms": [
          "type I pleuropulmonary blastoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020555"
    },
    {
      "id": 19998,
      "label": "pleuropulmonary blastoma type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12140
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019716",
          "ICD9:162.9",
          "MEDGEN:328133",
          "NCIT:C45627",
          "Orphanet:99934",
          "SCTID:707672001",
          "UMLS:C1710500"
        ],
        "synonyms": [
          "type II pleuropulmonary blastoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020556"
    },
    {
      "id": 19999,
      "label": "pleuropulmonary blastoma type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12140
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019717",
          "ICD9:162.9",
          "MEDGEN:328132",
          "NCIT:C45628",
          "Orphanet:99935",
          "SCTID:707673006",
          "UMLS:C1710499"
        ],
        "synonyms": [
          "type III pleuropulmonary blastoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020557"
    }
  ],
  "roots": [
    {
      "id": 7531,
      "label": "pulmonary blastoma"
    },
    {
      "id": 8005,
      "label": "childhood malignant neoplasm"
    },
    {
      "id": 23957,
      "label": "DICER1-related tumor predisposition"
    }
  ]
}