{
  "id": 23989,
  "label": "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100251",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4599,
      "label": "skin neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6798,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3165",
          "EFO:0004198",
          "ICD9:239.2",
          "MEDGEN:19993",
          "MESH:D012878",
          "NCIT:C3372",
          "ONCOTREE:SKIN",
          "SCTID:126488004",
          "UMLS:C0037286"
        ],
        "synonyms": [
          "neoplasm of skin",
          "neoplasm of the skin",
          "neoplasm of zone of skin",
          "skin neoplasm",
          "skin neoplasms",
          "skin tumor",
          "skin tumour",
          "tumor of skin",
          "tumor of the skin",
          "tumor of zone of skin",
          "tumour of skin",
          "tumour of the skin",
          "tumour of zone of skin",
          "zone of skin neoplasm",
          "zone of skin neoplasm (disease)",
          "zone of skin tumor",
          "zone of skin tumour",
          "skin",
          "skin benign neoplasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma."
      },
      "child_count": 34,
      "reference_id": "MONDO:0002531"
    },
    {
      "id": 18819,
      "label": "familial tumoral calcinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198,
        4223,
        4258
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 15,
      "reference_id": "MONDO:0018891"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4599,
      "label": "skin neoplasm"
    },
    {
      "id": 18819,
      "label": "familial tumoral calcinosis"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}