{
  "id": 9117,
  "label": "hyperparathyroidism 2 with jaw tumors",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007768",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "id": 18958,
      "label": "bone neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7061,
        20678
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003820",
          "GARD:0018892",
          "ICD10CM:C40-C41",
          "MEDGEN:488993",
          "NCIT:C9343",
          "ONCOTREE:BONE",
          "Orphanet:68411",
          "UMLS:C2732838"
        ],
        "synonyms": [
          "bone neoplasm",
          "bone neoplasms",
          "bone tissue neoplasm",
          "bone tissue tumor",
          "bone tissue tumour",
          "bone tumor",
          "bone tumors",
          "bone tumour",
          "bone tumours",
          "neoplasm of bone",
          "neoplasm of bone tissue",
          "neoplasm of the bone",
          "osseous neoplasm",
          "osseous tumor",
          "osseous tumour",
          "tumor of bone",
          "tumor of bone tissue",
          "tumor of the bone",
          "tumour of bone",
          "tumour of bone tissue",
          "tumour of the bone",
          "primary bone cancer",
          "primary malignant neoplasm of bone",
          "rare bone tumor",
          "rare bone tumour"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage."
      },
      "child_count": 40,
      "reference_id": "MONDO:0019060"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    },
    {
      "id": 24807,
      "label": "abnormal mineralization disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026430"
        ],
        "synonyms": [
          "disorder of bone mineralization",
          "osteomalacia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia where osteoid becomes calcified."
      },
      "child_count": 18,
      "reference_id": "MONDO:0800096"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 16897,
      "label": "familial primary hyperparathyroidism"
    },
    {
      "id": 18958,
      "label": "bone neoplasm"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 24807,
      "label": "abnormal mineralization disorder"
    }
  ]
}