{
  "id": 9137,
  "label": "familial hypocalciuric hypercalcemia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007792",
  "properties": {
    "xrefs": [
      "DOID:0060701",
      "GARD:0009758",
      "MEDGEN:374447",
      "MESH:C537146",
      "OMIM:145981",
      "Orphanet:101049",
      "UMLS:C1840347"
    ],
    "synonyms": [
      "FHH type 2",
      "HHC2",
      "familial hypocalciuric hypercalcemia type 2",
      "hpocalciuric hypercalcemia, type II",
      "FBH2",
      "familial benign hypercalcemia, type 2",
      "hypercalcemia, familial benign type 2",
      "hypercalcemia, familial benign, type 2",
      "hypocalciuric hypercalcemia, familial, type 2",
      "hypocalciuric hypercalcemia, familial, type II"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18499,
      "label": "familial hypocalciuric hypercalcemia"
    }
  ]
}