{
  "id": 16684,
  "label": "isolated autosomal dominant hypomagnesemia, Glaudemans type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016048",
  "properties": {
    "xrefs": [
      "GARD:0020334",
      "MEDGEN:930824",
      "Orphanet:199326",
      "SCTID:722008003",
      "UMLS:C4305155"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17903,
      "label": "familial primary hypomagnesemia with normocalcuria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025121",
          "Orphanet:306522"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017626"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17903,
      "label": "familial primary hypomagnesemia with normocalcuria"
    }
  ]
}