{
  "id": 18259,
  "label": "familial primary hypomagnesemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018100",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:896",
          "GARD:0024088",
          "MEDGEN:6325",
          "MESH:D008664",
          "UMLS:C0025534"
        ],
        "synonyms": [
          "metal metabolism disorder",
          "metal metabolism, inborn error"
        ],
        "definition": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004689"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    },
    {
      "id": 17990,
      "label": "disorder of magnesium transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17986
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021357",
          "MEDGEN:1842842",
          "Orphanet:309848",
          "UMLS:C5681030"
        ],
        "synonyms": [
          "inborn error of magnesium ion transport",
          "inborn magnesium ion transport disorder",
          "rare inborn error of magnesium ion transport"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport."
      },
      "child_count": 1,
      "reference_id": "MONDO:0017765"
    }
  ],
  "children": [
    {
      "id": 17901,
      "label": "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021254",
          "MEDGEN:1843047",
          "Orphanet:306516",
          "UMLS:C5679977"
        ],
        "synonyms": [
          "FHHNC",
          "Michellis-Castrillo syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017624"
    },
    {
      "id": 17902,
      "label": "familial primary hypomagnesemia with hypocalcuria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025120",
          "Orphanet:306519",
          "SCTID:711151004"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0017625"
    },
    {
      "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"
    },
    {
      "id": 25129,
      "label": "EGF-related primary hypomagnesemia with intellectual disability",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022485",
          "MEDGEN:1843381",
          "Orphanet:620368",
          "UMLS:C5681825"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850088"
    },
    {
      "id": 25460,
      "label": "hypomagnesemia 7, renal, with or without dilated cardiomyopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060972",
          "GARD:0026701",
          "MEDGEN:1824039",
          "OMIM:620152",
          "UMLS:C5774266"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859328"
    }
  ],
  "roots": [
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    },
    {
      "id": 17990,
      "label": "disorder of magnesium transport"
    }
  ]
}