{
  "id": 13757,
  "label": "renal hypomagnesemia 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012717",
  "properties": {
    "xrefs": [
      "DOID:0060882",
      "GARD:0024886",
      "MEDGEN:388692",
      "MESH:C567127",
      "OMIM:611718",
      "UMLS:C2673648"
    ],
    "synonyms": [
      "EGF familial primary hypomagnesemia",
      "EGF primary hypomagnesemia",
      "HOMG4",
      "familial primary hypomagnesemia caused by mutation in EGF",
      "primary hypomagnesemia caused by mutation in EGF",
      "renal hypomagnesemia type 4",
      "hypomagnesemia 4, renal",
      "hypomagnesemia, renal, Normocalciuric"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18260,
      "label": "familial primary hypomagnesemia with normocalciuria and normocalcemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17903
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025127",
          "MEDGEN:1390277",
          "Orphanet:34527",
          "SCTID:725031005",
          "UMLS:C4510731"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay."
      },
      "child_count": 3,
      "reference_id": "MONDO:0018101"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18260,
      "label": "familial primary hypomagnesemia with normocalciuria and normocalcemia"
    }
  ]
}