{
  "id": 18819,
  "label": "familial tumoral calcinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018891",
  "properties": {
    "xrefs": [
      "EFO:0009385",
      "GARD:0010877",
      "MEDGEN:452340",
      "MedDRA:10059364",
      "Orphanet:53715",
      "UMLS:C0263628"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4198,
      "label": "integumentary system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:16",
          "EFO:0010285",
          "MEDGEN:712400",
          "SCTID:128598002",
          "UMLS:C1290011"
        ],
        "synonyms": [
          "disease of integumental system",
          "disease or disorder of integumental system",
          "disorder of integumental system",
          "integumental system disease",
          "integumental system disease or disorder",
          "integumentary disease",
          "disorder of integument"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the integumental system."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002051"
    },
    {
      "id": 4223,
      "label": "endocrine gland neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6798,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003769",
          "ICD9:239.7",
          "MEDGEN:4044",
          "NCIT:C3010",
          "SCTID:387922007",
          "UMLS:C0014132"
        ],
        "synonyms": [
          "endocrine gland neoplasm (disease)",
          "endocrine gland tumor",
          "endocrine gland tumour",
          "endocrine neoplasm",
          "endocrine system neoplasm",
          "endocrine system tumor",
          "endocrine system tumour",
          "endocrine tumor",
          "endocrine tumour",
          "neoplasm of endocrine gland",
          "tumor of endocrine gland",
          "tumour of endocrine gland",
          "malignant endocrine tumor",
          "malignant endocrine tumour"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma."
      },
      "child_count": 28,
      "reference_id": "MONDO:0002082"
    },
    {
      "id": 4258,
      "label": "calcinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:182",
          "HP:0003761",
          "ICD9:275.49",
          "MEDGEN:709",
          "MESH:D002114",
          "NCIT:C3672",
          "SCTID:6595006",
          "UMLS:C0006663",
          "icd11.foundation:1374802956"
        ],
        "synonyms": [
          "calcification",
          "calcium deposit(s)",
          "deposit(s), calcium",
          "macrocalcification",
          "pathologic calcification",
          "pathologically calcified structure"
        ],
        "definition": "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer."
      },
      "child_count": 3,
      "reference_id": "MONDO:0002123"
    }
  ],
  "children": [
    {
      "id": 13550,
      "label": "normophosphatemic familial tumoral calcinosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18819,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080170",
          "GARD:0010878",
          "MEDGEN:355311",
          "MESH:C566473",
          "OMIM:610455",
          "Orphanet:306658",
          "UMLS:C1864861"
        ],
        "synonyms": [
          "normophosphatemic familial tumoral calcinosis",
          "tumoral calcinosis, familial, normophosphatemic",
          "NFTC",
          "calcinosis, tumoral, with Normophosphatemia",
          "familial normophosphatemic tumoral calcinosis",
          "tumoral calcinosis, normophosphatemic, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012502"
    },
    {
      "id": 23735,
      "label": "tumoral calcinosis, hyperphosphatemic, familial, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18819,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009383",
          "GARD:0016281",
          "MEDGEN:1640532",
          "OMIM:617993",
          "UMLS:C4693863"
        ],
        "synonyms": [
          "tumoral calcinosis, hyperphosphatemic, familial, 2",
          "HFTC2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0060714"
    },
    {
      "id": 23736,
      "label": "tumoral calcinosis, hyperphosphatemic, familial, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18819,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009384",
          "GARD:0016282",
          "MEDGEN:1638917",
          "OMIM:617994",
          "UMLS:C4693864"
        ],
        "synonyms": [
          "tumoral calcinosis, hyperphosphatemic, familial, 3",
          "HFTC3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0060715"
    },
    {
      "id": 23989,
      "label": "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4599,
        18819,
        18954,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111063",
          "GARD:0010879",
          "MEDGEN:360297",
          "NCIT:C131851",
          "Orphanet:306661",
          "UMLS:C1876187"
        ],
        "synonyms": [
          "HHS",
          "HFTC",
          "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome",
          "hypercalcemic tumoral calcinosis",
          "hyperphosphatemic familial tumoral calcinosis",
          "tumoral calcinosis, hyperphosphatemic, familial, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100251"
    },
    {
      "id": 23990,
      "label": "tumoral calcinosis, hyperphosphatemic, familial, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18819,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015146",
          "MEDGEN:1642611",
          "OMIM:211900",
          "UMLS:C4692564"
        ],
        "synonyms": [
          "HFTC",
          "HFTC1",
          "Morbus Teutschlaender",
          "Teutschlaender disease, familial",
          "calcinosis, tumoral, with hyperphosphatemia",
          "hyperostosis-hyperphosphatemia syndrome",
          "tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1",
          "tumoral calcinosis, Hyperphosphatemic, familial, 1",
          "tumoral calcinosis, hyperphosphatemic, familial",
          "tumoral calcinosis, hyperphosphatemic, familial, 1",
          "tumoral calcinosis, primary Hyperphosphatemic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100252"
    }
  ],
  "roots": [
    {
      "id": 4198,
      "label": "integumentary system disorder"
    },
    {
      "id": 4223,
      "label": "endocrine gland neoplasm"
    },
    {
      "id": 4258,
      "label": "calcinosis"
    }
  ]
}