{
  "id": 18260,
  "label": "familial primary hypomagnesemia with normocalciuria and normocalcemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018101",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": [
    {
      "id": 13757,
      "label": "renal hypomagnesemia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18260
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012717"
    },
    {
      "id": 14511,
      "label": "renal hypomagnesemia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18260
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060884",
          "GARD:0012155",
          "MEDGEN:462645",
          "OMIM:613882",
          "UMLS:C3151295"
        ],
        "synonyms": [
          "HOMG6",
          "renal hypomagnesemia type 6",
          "hypomagnesemia 6, renal",
          "renal hypomagnesemia-6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013480"
    },
    {
      "id": 15627,
      "label": "hypomagnesemia, seizures, and intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18260
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025007",
          "OMIMPS:616418"
        ],
        "synonyms": [
          "hypomagnesemia, seizures, and intellectual disability",
          "hypomagnesemia, seizures, and mental retardation",
          "HOMGSMR"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0014631"
    }
  ],
  "roots": [
    {
      "id": 17903,
      "label": "familial primary hypomagnesemia with normocalcuria"
    }
  ]
}