{
  "id": 18918,
  "label": "multiple endocrine neoplasia type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019003",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16049,
      "label": "thyroid gland carcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4245,
        6734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3963",
          "EFO:0002892",
          "GARD:0019763",
          "HP:0002890",
          "MEDGEN:107811",
          "MedDRA:10007476",
          "NANDO:2200074",
          "NCIT:C4815",
          "Orphanet:100088",
          "SCTID:448216007",
          "UMLS:C0549473"
        ],
        "synonyms": [
          "cancer of the thyroid",
          "cancer of thyroid",
          "head and neck cancer, thyroid",
          "thyroid cancer",
          "thyroid gland cancer",
          "carcinoma of the thyroid",
          "carcinoma of the thyroid gland",
          "carcinoma of thyroid",
          "carcinoma of thyroid gland",
          "thyroid carcinoma",
          "thyroid gland carcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic."
      },
      "child_count": 22,
      "reference_id": "MONDO:0015075"
    },
    {
      "id": 17512,
      "label": "multiple endocrine neoplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16050,
        16218,
        20691
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3125",
          "GARD:0021044",
          "ICD10CM:E31.2",
          "ICD9:258.0",
          "ICDO:8360/1",
          "MEDGEN:45036",
          "MESH:D009377",
          "MedDRA:10061299",
          "NANDO:2100148",
          "NCIT:C6432",
          "OMIMPS:131100",
          "Orphanet:276161",
          "SCTID:46724008",
          "UMLS:C0027662"
        ],
        "synonyms": [
          "MEN",
          "men syndrome",
          "men syndromes",
          "multiple endocrine adenomatosis",
          "multiple endocrine neoplasia",
          "multiple endocrine neoplasia syndrome",
          "multiple endocrine neoplasia syndrome(s)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs."
      },
      "child_count": 9,
      "reference_id": "MONDO:0017169"
    }
  ],
  "children": [
    {
      "id": 9287,
      "label": "familial medullary thyroid carcinoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16159,
        18918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050547",
          "GARD:0016901",
          "MEDGEN:322311",
          "MESH:C536911",
          "NCIT:C46099",
          "OMIM:155240",
          "Orphanet:99361",
          "UMLS:C1833921"
        ],
        "synonyms": [
          "medullary thyroid carcinoma",
          "familial MTC",
          "familial medullary thyroid carcinoma",
          "hereditary medullary thyroid gland carcinoma",
          "hereditary thyroid medullary carcinoma",
          "thyroid carcinoma, familial medullary",
          "Fmtc",
          "MTC",
          "Mtc1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007958"
    },
    {
      "id": 9402,
      "label": "multiple endocrine neoplasia type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        7836,
        18918
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008082"
    },
    {
      "id": 9541,
      "label": "multiple endocrine neoplasia type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        18918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050430",
          "GARD:0004881",
          "MEDGEN:9958",
          "MESH:D018813",
          "NANDO:2200406",
          "NANDO:2201052",
          "NCIT:C3226",
          "OMIM:171400",
          "Orphanet:247698",
          "SCTID:721188000",
          "UMLS:C0025268",
          "icd11.foundation:1689268035"
        ],
        "synonyms": [
          "MEA type 2a",
          "MEA type II",
          "MEN2A",
          "RET-related multiple endocrine neoplasia type 2A",
          "Sipple syndrome",
          "men 2A",
          "men type 2a",
          "men type II",
          "multiple endocrine adenomatosis type 2A",
          "multiple endocrine adenomatosis type 2a",
          "multiple endocrine adenomatosis type II",
          "multiple endocrine adenomatosis, type II",
          "multiple endocrine neoplasia IIA",
          "multiple endocrine neoplasia type 2A",
          "multiple endocrine neoplasia type II",
          "multiple endocrine neoplasia, type II",
          "ptc syndrome",
          "men-2A syndrome",
          "multiple endocrine neoplasia, type 2A",
          "multiple endocrine neoplasia, type IIA",
          "pheochromocytoma and amyloid producing medullary thyroid carcinoma",
          "pheochromocytoma and amyloid-producing medullary thyroid carcinoma",
          "thyroid carcinoma, familial medullary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the RET gene, characterized by an increased risk of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008234"
    }
  ],
  "roots": [
    {
      "id": 16049,
      "label": "thyroid gland carcinoma"
    },
    {
      "id": 17512,
      "label": "multiple endocrine neoplasia"
    }
  ]
}