{
  "id": 10629,
  "label": "neonatal severe primary hyperparathyroidism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009397",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 16897,
      "label": "familial primary hyperparathyroidism"
    },
    {
      "id": 18958,
      "label": "bone neoplasm"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 24807,
      "label": "abnormal mineralization disorder"
    }
  ]
}