{
  "id": 16897,
  "label": "familial primary hyperparathyroidism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016365",
  "properties": {
    "xrefs": [
      "GARD:0002837",
      "MEDGEN:543605",
      "Orphanet:2207",
      "UMLS:C0271846",
      "icd11.foundation:1186866066"
    ],
    "synonyms": [
      "hereditary primary hyperparathyroidism (disease)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 11973,
      "label": "primary hyperparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3927
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11202",
          "EFO:0008519",
          "HP:0008200",
          "ICD10CM:E21.0",
          "ICD9:252.01",
          "MEDGEN:66354",
          "MESH:D049950",
          "NCIT:C48280",
          "SCTID:36348003",
          "UMLS:C0221002",
          "icd11.foundation:817194045"
        ],
        "synonyms": [
          "primary hyperparathyroidism",
          "primary hyperparathyroidism (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones."
      },
      "child_count": 1,
      "reference_id": "MONDO:0010837"
    },
    {
      "id": 16765,
      "label": "hereditary hyperparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3927,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020408",
          "MEDGEN:1843372",
          "OMIMPS:145000",
          "Orphanet:208596",
          "UMLS:C5680826"
        ],
        "synonyms": [
          "genetic hyperparathyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016166"
    },
    {
      "id": 20525,
      "label": "tumor of parathyroid gland",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3463,
        4223
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:239.7",
          "MEDGEN:10586",
          "NCIT:C3313",
          "SCTID:127020005",
          "UMLS:C0030521"
        ],
        "synonyms": [
          "neoplasm of parathyroid",
          "neoplasm of parathyroid gland",
          "neoplasm of the parathyroid",
          "neoplasm of the parathyroid gland",
          "parathyroid gland neoplasm",
          "parathyroid gland neoplasm (disease)",
          "parathyroid gland tumor",
          "parathyroid gland tumour",
          "parathyroid neoplasm",
          "parathyroid tumor",
          "parathyroid tumour",
          "tumor of parathyroid",
          "tumor of parathyroid gland",
          "tumor of the parathyroid",
          "tumor of the parathyroid gland",
          "tumour of parathyroid",
          "tumour of the parathyroid",
          "tumour of the parathyroid gland"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A neoplasm (disease) that involves the parathyroid gland."
      },
      "child_count": 6,
      "reference_id": "MONDO:0021360"
    }
  ],
  "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": 9117,
      "label": "hyperparathyroidism 2 with jaw tumors",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16218,
        16897,
        18958,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010829",
          "MEDGEN:310065",
          "NCIT:C48287",
          "OMIM:145001",
          "Orphanet:99880",
          "SCTID:702378002",
          "UMLS:C1704981"
        ],
        "synonyms": [
          "HPT-JT",
          "hyperparathyroidism 2 with jaw tumors",
          "hyperparathyroidism type 2",
          "hyperparathyroidism-2",
          "hyperparathyroidism-jaw tumor syndrome",
          "hyperparathyroidism-jaw tumour syndrome",
          "parathyroid adenoma with cystic changes",
          "HRPT2",
          "familial primary hyperparathyroidism with multiple ossifying jaw fibromas",
          "hereditary hyperparathyroidism-jaw tumor syndrome",
          "hereditary hyperparathyroidism-jaw tumour syndrome",
          "hyperparathyroidism 2",
          "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas",
          "hyperparathyroidism-jaw tumor syndrome, hereditary",
          "hyperparathyroidism-jaw tumour syndrome, hereditary",
          "parathyroid adenomatosis, familial cystic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007768"
    },
    {
      "id": 10629,
      "label": "neonatal severe primary hyperparathyroidism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16897,
        18958,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002838",
          "MEDGEN:331326",
          "MESH:C563375",
          "NCIT:C131853",
          "OMIM:239200",
          "Orphanet:417",
          "SCTID:715218009",
          "UMLS:C1832615",
          "icd11.foundation:1929875111"
        ],
        "synonyms": [
          "NSHPT",
          "hyperparathyroidism, neonatal",
          "Nsph",
          "hyperparathyroidism, neonatal severe",
          "hyperparathyroidism, neonatal severe primary",
          "neonatal severe hyperparathyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009397"
    },
    {
      "id": 16003,
      "label": "familial isolated hyperparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218,
        16897
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016923",
          "MEDGEN:1643161",
          "NCIT:C94830",
          "Orphanet:99879",
          "UMLS:C4551961",
          "icd11.foundation:1799621215"
        ],
        "synonyms": [
          "FIHP",
          "FIHPT",
          "familial isolated hyperparathyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015027"
    },
    {
      "id": 23350,
      "label": "hyperparathyroidism, primary, caused by water clear cell hyperplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16897
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018254",
          "MEDGEN:325036",
          "MESH:C563982",
          "OMIM:600166",
          "UMLS:C1838501"
        ],
        "synonyms": [
          "hyperparathyroidism, primary, caused by water clear cell hyperplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044350"
    }
  ],
  "roots": [
    {
      "id": 11973,
      "label": "primary hyperparathyroidism"
    },
    {
      "id": 16765,
      "label": "hereditary hyperparathyroidism"
    },
    {
      "id": 20525,
      "label": "tumor of parathyroid gland"
    }
  ]
}