{
  "id": 16003,
  "label": "familial isolated hyperparathyroidism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015027",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": 16897,
      "label": "familial primary hyperparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        11973,
        16765,
        20525
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 15,
      "reference_id": "MONDO:0016365"
    }
  ],
  "children": [
    {
      "id": 9116,
      "label": "hyperparathyroidism 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16003,
        18958,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018253",
          "MEDGEN:333554",
          "MESH:C564166",
          "OMIM:145000",
          "UMLS:C1840402"
        ],
        "synonyms": [
          "hyperparathyroidism 1",
          "hyperparathyroidism type 1",
          "hyperparathyroidism, familial primary",
          "HRPT1",
          "hyperparathyroidism, familial isolated primary",
          "parathyroid adenoma, familial"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007767"
    },
    {
      "id": 13457,
      "label": "hyperparathyroidism 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16003,
        18958,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018255",
          "MEDGEN:355277",
          "MESH:C566450",
          "OMIM:610071",
          "UMLS:C1864729"
        ],
        "synonyms": [
          "HRPT3",
          "hyperparathyroidism 3",
          "hyperparathyroidism, familial isolated"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012406"
    },
    {
      "id": 21515,
      "label": "hyperparathyroidism 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16003,
        18958,
        21247,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018256",
          "MEDGEN:1386327",
          "OMIM:617343",
          "UMLS:C4479229"
        ],
        "synonyms": [
          "GCM2 familial isolated hyperparathyroidism",
          "familial isolated hyperparathyroidism caused by mutation in GCM2",
          "hyperparathyroidism 4",
          "hyperparathyroidism type 4",
          "HRPT4"
        ],
        "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": "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024570"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 16897,
      "label": "familial primary hyperparathyroidism"
    }
  ]
}