{
  "id": 18499,
  "label": "familial hypocalciuric hypercalcemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018458",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3771,
      "label": "hypercalcemia disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12678",
          "HP:0003072",
          "ICD10CM:E83.52",
          "ICD9:275.42",
          "MEDGEN:5686",
          "MESH:D006934",
          "NCIT:C3112",
          "SCTID:66931009",
          "UMLS:C0020437"
        ],
        "synonyms": [
          "hypercalcemia"
        ],
        "definition": "Abnormally high concentration of calcium in the peripheral blood."
      },
      "child_count": 3,
      "reference_id": "MONDO:0001566"
    },
    {
      "id": 6875,
      "label": "endocrine system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:28",
          "EFO:0001379",
          "ICD9:259.8",
          "ICD9:259.9",
          "MEDGEN:4043",
          "MESH:D004700",
          "NANDO:1100009",
          "NANDO:2100109",
          "NCIT:C3009",
          "SCTID:362969004",
          "UMLS:C0014130"
        ],
        "synonyms": [
          "disease of endocrine system",
          "disease or disorder of endocrine system",
          "disorder of endocrine system",
          "endocrine disease",
          "endocrine disorder",
          "endocrine system disease",
          "endocrine system disease or disorder",
          "endocrine system disorder",
          "endocrinopathy",
          "thyroid or other glandular disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the endocrine system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005151"
    },
    {
      "id": 17416,
      "label": "interstitial lung disease specific to childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16615
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842412",
          "Orphanet:264656",
          "SCTID:328661000119108",
          "UMLS:C5679752"
        ],
        "synonyms": [
          "ILD specific to childhood",
          "chILD",
          "chILD syndrome",
          "childhood interstitial lung disease",
          "interstitial lung disease of childhood",
          "paediatric interstitial lung disease",
          "pediatric interstitial lung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A interstitial lung disease that occurs during childhood."
      },
      "child_count": 5,
      "reference_id": "MONDO:0017014"
    },
    {
      "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": 22225,
      "label": "inherited interstitial lung disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16615
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027936",
          "OMIMPS:619611"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An instance of interstitial lung disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0031199"
    }
  ],
  "children": [
    {
      "id": 9136,
      "label": "familial hypocalciuric hypercalcemia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18499,
        24807
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007791"
    },
    {
      "id": 9137,
      "label": "familial hypocalciuric hypercalcemia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18499
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007792"
    },
    {
      "id": 12059,
      "label": "familial hypocalciuric hypercalcemia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18499
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010926"
    }
  ],
  "roots": [
    {
      "id": 3771,
      "label": "hypercalcemia disease"
    },
    {
      "id": 6875,
      "label": "endocrine system disorder"
    },
    {
      "id": 17416,
      "label": "interstitial lung disease specific to childhood"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 22225,
      "label": "inherited interstitial lung disease"
    }
  ]
}