{
  "id": 9541,
  "label": "multiple endocrine neoplasia type 2A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008234",
  "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."
  },
  "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": 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": 18918,
      "label": "multiple endocrine neoplasia type 2"
    }
  ]
}