{
  "id": 17903,
  "label": "familial primary hypomagnesemia with normocalcuria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017626",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 18259,
      "label": "familial primary hypomagnesemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6470,
        16626,
        17990
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060879",
          "GARD:0025126",
          "MEDGEN:57481",
          "NCIT:C123263",
          "OMIMPS:602014",
          "Orphanet:34526",
          "SCTID:80710001",
          "UMLS:C0151723"
        ],
        "synonyms": [
          "hypomagnesemia",
          "familial primary hypomagnesemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration."
      },
      "child_count": 15,
      "reference_id": "MONDO:0018100"
    }
  ],
  "children": [
    {
      "id": 12298,
      "label": "intestinal hypomagnesemia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17903
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060883",
          "GARD:0013072",
          "MEDGEN:355596",
          "MESH:C566593",
          "OMIM:602014",
          "Orphanet:30924",
          "SCTID:190856003",
          "UMLS:C1865974"
        ],
        "synonyms": [
          "HOMG1",
          "HSH",
          "PHSH",
          "TRPM6 familial primary hypomagnesemia",
          "TRPM6 primary hypomagnesemia",
          "familial primary hypomagnesemia caused by mutation in TRPM6",
          "hypomagnesemia caused by selective magnesium malabsorption",
          "hypomagnesemia intestinal type 1",
          "hypomagnesemic tetany",
          "intestinal hypomagnesemia type 1",
          "intestinal hypomagnesemia with secondary hypocalcemia",
          "primary hypomagnesemia caused by mutation in TRPM6",
          "primary hypomagnesemia with secondary hypocalcemia",
          "Homg",
          "hypomagnesemia 1, intestinal",
          "hypomagnesemia with secondary hypocalcemia",
          "hypomagnesemia, intestinal, with secondary hypocalcemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011176"
    },
    {
      "id": 16684,
      "label": "isolated autosomal dominant hypomagnesemia, Glaudemans type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17903
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016048"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 18259,
      "label": "familial primary hypomagnesemia"
    }
  ]
}