{
  "id": 17512,
  "label": "multiple endocrine neoplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017169",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16050,
      "label": "multiple polyglandular tumor",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16071
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019766",
          "ICD10WHO:D44.8",
          "MEDGEN:1863613",
          "Orphanet:100094",
          "UMLS:C5848154",
          "icd11.foundation:1316827435"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0015079"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 20691,
      "label": "neurocristopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "disorder of neural crest cell development",
          "disorder of neural crest development",
          "neural crest cell development disease"
        ],
        "definition": "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021635"
    }
  ],
  "children": [
    {
      "id": 8921,
      "label": "multiple endocrine neoplasia type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16897,
        17512,
        20437
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10017",
          "GARD:0003829",
          "ICD10CM:E31.21",
          "ICD9:237.4",
          "ICD9:258.01",
          "MEDGEN:9957",
          "MESH:D018761",
          "MedDRA:10028190",
          "NANDO:2200405",
          "NCIT:C3225",
          "NORD:1466",
          "OMIM:131100",
          "Orphanet:652",
          "SCTID:30664006",
          "UMLS:C0025267",
          "icd11.foundation:1638765741"
        ],
        "synonyms": [
          "multiple endocrine adenomatosis",
          "MEA type 1",
          "MEA type I",
          "MEN1",
          "MEN1 multiple endocrine neoplasia",
          "MEN1 syndrome",
          "MEN1-related multiple endocrine neoplasia",
          "Wermer syndrome",
          "Wermer's syndrome",
          "men 1",
          "men type 1",
          "men type I",
          "multiple endocrine adenomatosis type 1",
          "multiple endocrine adenomatosis type I",
          "multiple endocrine adenomatosis, type I",
          "multiple endocrine neoplasia 1",
          "multiple endocrine neoplasia caused by mutation in MEN1",
          "multiple endocrine neoplasia type 1",
          "multiple endocrine neoplasia type 1 syndrome",
          "multiple endocrine neoplasia type I",
          "multiple endocrine neoplasia, type I",
          "MEA 1",
          "MEN1 somatic mutations",
          "endocrine adenomatosis multiple",
          "endocrine adenomatosis, multiple",
          "multiple endocrine neoplasia, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant tumor predisposition syndrome caused by pathogenic variants in the MEN1 gene, characterized by an increased risk of tumors of the parathyroid glands, pituitary gland, and foregut neuroendocrine tumors (most commonly pancreatic islet cells)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007540"
    },
    {
      "id": 13600,
      "label": "multiple endocrine neoplasia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        17512
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080137",
          "GARD:0017275",
          "MEDGEN:373469",
          "MESH:C567059",
          "NCIT:C157449",
          "OMIM:610755",
          "Orphanet:276152",
          "SCTID:715907003",
          "UMLS:C1970712",
          "icd11.foundation:157945677"
        ],
        "synonyms": [
          "CDKN1B multiple endocrine neoplasia",
          "MEN4",
          "multiple endocrine neoplasia caused by mutation in CDKN1B",
          "multiple endocrine neoplasia type 4",
          "multiple endocrine neoplasia, type IV",
          "multiple endocrine neoplasia, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012552"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 16050,
      "label": "multiple polyglandular tumor"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 20691,
      "label": "neurocristopathy"
    }
  ]
}