{
  "id": 23957,
  "label": "DICER1-related tumor predisposition",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100216",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 9038,
      "label": "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2848,
        16218,
        23957
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017278",
          "ICD9:240.0",
          "MEDGEN:86230",
          "MESH:C562732",
          "OMIM:138800",
          "Orphanet:276399",
          "SCTID:267369002",
          "UMLS:C0302859"
        ],
        "synonyms": [
          "euthyroid goiter",
          "euthyroid goitre",
          "simple goiter",
          "simple goitre",
          "FMNG",
          "MNG1",
          "familial MNG",
          "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors",
          "goiter, nontoxic, with Intrathyroidal calcification",
          "multinodular goiter, adolescent"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007681"
    },
    {
      "id": 12140,
      "label": "pleuropulmonary blastoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7531,
        8005,
        23957
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0011014"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}