{
  "id": 10772,
  "label": "renal hypomagnesemia 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009550",
  "properties": {
    "xrefs": [
      "DOID:0060880",
      "GARD:0002906",
      "MEDGEN:120640",
      "MESH:C537153",
      "OMIM:248250",
      "Orphanet:31043",
      "SCTID:725033008",
      "UMLS:C0268448"
    ],
    "synonyms": [
      "CLDN16 familial primary hypomagnesemia",
      "CLDN16 primary hypomagnesemia",
      "FHHNC without severe ocular involvement",
      "HOMG3",
      "familial primary hypomagnesemia caused by mutation in CLDN16",
      "primary hypomagnesemia caused by mutation in CLDN16",
      "renal hypomagnesemia type 3",
      "hypercalciuria, childhood, self-limiting",
      "hypomagnesemia 3, renal",
      "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis",
      "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included",
      "hypomagnesemia, isolated renal",
      "hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium",
      "hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium",
      "magnesium, defect in renal tubular transport of"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3772,
      "label": "nephrocalcinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4258,
        6948
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12679",
          "ICD9:275.49",
          "MEDGEN:10222",
          "MESH:D009397",
          "NCIT:C84918",
          "SCTID:48638002",
          "UMLS:C0027709",
          "icd11.foundation:1359282431"
        ],
        "synonyms": [
          "hypercalcemic nephropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys."
      },
      "child_count": 2,
      "reference_id": "MONDO:0001567"
    },
    {
      "id": 8001,
      "label": "renal tubular transport disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6948
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:447",
          "EFO:1000647",
          "MEDGEN:19728",
          "MESH:D015499",
          "UMLS:C0035091"
        ],
        "synonyms": [
          "disorder of renal absorption",
          "renal absorption disease",
          "kidney tubular transport, inborn error",
          "kidney tubular transport, inborn errors",
          "renal tubular transport errors",
          "renal tubular transport, inborn error"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Genetic defects in the selective or non-selective transport functions of the kidney tubules."
      },
      "child_count": 9,
      "reference_id": "MONDO:0006510"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3772,
      "label": "nephrocalcinosis"
    },
    {
      "id": 8001,
      "label": "renal tubular transport disease"
    },
    {
      "id": 17901,
      "label": "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis"
    }
  ]
}