{
  "id": 12139,
  "label": "autosomal dominant hypocalcemia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011013",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18560,
      "label": "autosomal dominant hypocalcemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        7206,
        16919
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0018543"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18560,
      "label": "autosomal dominant hypocalcemia"
    }
  ]
}