{
  "id": 12059,
  "label": "familial hypocalciuric hypercalcemia 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010926",
  "properties": {
    "xrefs": [
      "DOID:0060702",
      "GARD:0002878",
      "MEDGEN:322173",
      "MESH:C537147",
      "OMIM:600740",
      "Orphanet:101050",
      "UMLS:C1833372"
    ],
    "synonyms": [
      "AP2S1 familial hypocalciuric hypercalcemia",
      "FHH type 3",
      "HHC3",
      "familial hypocalciuric hypercalcemia caused by mutation in AP2S1",
      "familial hypocalciuric hypercalcemia type 3",
      "hpocalciuric hypercalcemia, type III",
      "FBH3",
      "FBHOk",
      "familial benign hypercalcemia, Oklahoma variant",
      "familial benign hypercalcemia, type 3",
      "hypercalcemia, familial benign, Oklahoma type",
      "hypercalcemia, familial benign, type 3",
      "hypocalciuric hypercalcemia, familial, type 3",
      "hypocalciuric hypercalcemia, familial, type III"
    ],
    "categories": [
      {
        "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 AP2S1 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18499,
      "label": "familial hypocalciuric hypercalcemia"
    }
  ]
}