{
  "id": 9402,
  "label": "multiple endocrine neoplasia type 2B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008082",
  "properties": {
    "xrefs": [
      "DOID:10016",
      "GARD:0010225",
      "ICD9:237.4",
      "ICD9:258.03",
      "MEDGEN:9959",
      "MESH:D018814",
      "MedDRA:10056420",
      "NANDO:2201053",
      "NCIT:C3227",
      "OMIM:162300",
      "Orphanet:247709",
      "SCTID:61530001",
      "UMLS:C0025269",
      "icd11.foundation:1754393919"
    ],
    "synonyms": [
      "MEN2B",
      "RET-related multiple endocrine neoplasia type 2B",
      "Wagenmann-Froboese syndrome",
      "men 2B",
      "men IIB",
      "men type 2B",
      "men type IIB",
      "multiple endocrine adenomatosis type IIB",
      "multiple endocrine neoplasia IIB",
      "multiple endocrine neoplasia type 2B",
      "multiple endocrine neoplasia type 3",
      "multiple endocrine neoplasia type IIB",
      "multiple endocrine neoplasia type III",
      "multiple endocrine neoplasia, type III",
      "Neuromata, mucosal, with endocrine tumors",
      "Neuromata, mucosal, with endocrine tumours",
      "mucosal Neuroma syndrome",
      "multiple endocrine neoplasia, type 2B",
      "multiple endocrine neoplasia, type 3 (formerly)",
      "multiple endocrine neoplasia, type IIB",
      "multiple endocrine neoplasia, type III, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "An autosomal dominant disorder caused by specific pathogenic variants in the RET gene, characterized by an increased risk of very early onset medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism, and mucosal neuromas."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 7836,
      "label": "malignant urinary system neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6733,
        20307
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3996",
          "EFO:1000363",
          "ICD10CM:C64-C68",
          "ICD9:189.9",
          "MEDGEN:738719",
          "NCIT:C192668",
          "NCIT:C9297",
          "SCTID:448233000",
          "UMLS:C1644719"
        ],
        "synonyms": [
          "cancer of renal system",
          "malignant neoplasm of renal system",
          "malignant renal system neoplasm",
          "malignant urinary system neoplasm",
          "malignant urinary tract neoplasm",
          "renal system cancer",
          "urinary system cancer"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas."
      },
      "child_count": 20,
      "reference_id": "MONDO:0006295"
    },
    {
      "id": 18918,
      "label": "multiple endocrine neoplasia type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16049,
        17512
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003830",
          "ICD9:194.8",
          "ICD9:258.02",
          "MEDGEN:887211",
          "MedDRA:10028191",
          "NANDO:2200406",
          "NCIT:C123329",
          "NORD:1467",
          "Orphanet:653",
          "SCTID:61808009",
          "UMLS:C4048306",
          "icd11.foundation:1837913809"
        ],
        "synonyms": [
          "MEN2",
          "multiple endocrine neoplasia type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019003"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 7836,
      "label": "malignant urinary system neoplasm"
    },
    {
      "id": 18918,
      "label": "multiple endocrine neoplasia type 2"
    }
  ]
}