{
  "id": 18560,
  "label": "autosomal dominant hypocalcemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018543",
  "properties": {
    "xrefs": [
      "DOID:0090109",
      "GARD:0002877",
      "MEDGEN:884527",
      "OMIMPS:601198",
      "Orphanet:428",
      "SCTID:711152006",
      "UMLS:C4048195"
    ],
    "synonyms": [
      "hypocalcemia",
      "AD hypocalcemia",
      "hypocalcemia, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 7206,
      "label": "calcium metabolic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2777
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10575",
          "EFO:0005769",
          "ICD9:275.4",
          "ICD9:275.40",
          "ICD9:275.49",
          "MEDGEN:714",
          "MESH:D002128",
          "SCTID:71638002",
          "UMLS:C0006705"
        ],
        "synonyms": [
          "disorder of calcium metabolism",
          "calcium metabolism disease",
          "calcium metabolism disorder"
        ],
        "definition": "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization."
      },
      "child_count": 4,
      "reference_id": "MONDO:0005557"
    },
    {
      "id": 16919,
      "label": "familial hypoparathyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16764,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111387",
          "GARD:0002910",
          "MEDGEN:322005",
          "MESH:C537156",
          "NORD:1128",
          "OMIMPS:146200",
          "Orphanet:2238",
          "SCTID:725036000",
          "UMLS:C1832648",
          "icd11.foundation:1907423603"
        ],
        "synonyms": [
          "Familial Isolated Hypoparathyroidism",
          "familial isolated hypoparathyroidism",
          "hypoparathyroidism familial isolated",
          "hypoparathyroidism, familial",
          "hypoparathyroidism, familial isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016390"
    }
  ],
  "children": [
    {
      "id": 12139,
      "label": "autosomal dominant hypocalcemia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18560
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090107",
          "GARD:0024767",
          "MEDGEN:811594",
          "OMIM:601198",
          "UMLS:C3715128"
        ],
        "synonyms": [
          "hypocalcemia, autosomal dominant",
          "CASR autosomal dominant hypocalcemia",
          "HYPOC1",
          "autosomal dominant hypocalcemia caused by mutation in CASR",
          "autosomal dominant hypocalcemia type 1",
          "hypocalcemia, autosomal dominant type 1",
          "hypocalcemia, autosomal dominant, with Bartter syndrome",
          "hypercalciuric hypocalcemia",
          "hypocalcemia, autosomal dominant 1",
          "hypocalcemia, autosomal dominant 1, with Bartter syndrome",
          "hypocalcemia, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011013"
    },
    {
      "id": 15153,
      "label": "autosomal dominant hypocalcemia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18560
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090108",
          "GARD:0015951",
          "MEDGEN:815573",
          "OMIM:615361",
          "UMLS:C3809243"
        ],
        "synonyms": [
          "HYPOC2",
          "autosomal dominant hypocalcemia type 2",
          "hypocalcemia, autosomal dominant type 2",
          "hypocalcemia, autosomal dominant 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014146"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 7206,
      "label": "calcium metabolic disease"
    },
    {
      "id": 16919,
      "label": "familial hypoparathyroidism"
    }
  ]
}