{
  "id": 9136,
  "label": "familial hypocalciuric hypercalcemia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007791",
  "properties": {
    "xrefs": [
      "DOID:0060700",
      "GARD:0002796",
      "MEDGEN:137973",
      "MESH:C537145",
      "MedDRA:10068704",
      "OMIM:145980",
      "Orphanet:93372",
      "SCTID:704166007",
      "UMLS:C0342637"
    ],
    "synonyms": [
      "CASR familial hypocalciuric hypercalcemia",
      "FHH type 1",
      "HHC1",
      "familial benign hypercalcemia 1",
      "familial hypocalciuric hypercalcemia caused by mutation in CASR",
      "familial hypocalciuric hypercalcemia type 1",
      "hpocalciuric hypercalcemia, type I",
      "FBH1",
      "Fhh1",
      "familial benign hypercalcemia type 1",
      "hypercalcemia, familial benign",
      "hypercalcemia, familial benign type 1",
      "hypocalciuric hypercalcemia, acquired",
      "hypocalciuric hypercalcemia, familial, type 1",
      "hypocalciuric hypercalcemia, familial, type I"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18499,
      "label": "familial hypocalciuric hypercalcemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3771,
        6875,
        17416,
        18954,
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060699",
          "GARD:0010828",
          "MEDGEN:369200",
          "NCIT:C123262",
          "OMIMPS:145980",
          "Orphanet:405",
          "SCTID:237885008",
          "UMLS:C1809471",
          "icd11.foundation:81374726"
        ],
        "synonyms": [
          "familial benign hypercalcemia",
          "familial benign hypocalciuric hypercalcemia",
          "FBH",
          "FBHH",
          "FHH",
          "hypocalciuric hypercalcemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration."
      },
      "child_count": 15,
      "reference_id": "MONDO:0018458"
    },
    {
      "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": 18499,
      "label": "familial hypocalciuric hypercalcemia"
    },
    {
      "id": 24807,
      "label": "abnormal mineralization disorder"
    }
  ]
}