{
  "id": 17901,
  "label": "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017624",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 10770,
      "label": "renal hypomagnesemia 5 with ocular involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17901,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060881",
          "GARD:0003451",
          "MEDGEN:1648449",
          "MESH:C536148",
          "OMIM:248190",
          "Orphanet:2196",
          "UMLS:C4721891"
        ],
        "synonyms": [
          "FHHNC with severe ocular involvement",
          "FHHNCOI",
          "Meier-Blumberg-Imahorn syndrome",
          "hypercalciuria-bilateral macular coloboma syndrome",
          "HOMG5",
          "Meier Blumberg Imahorn syndrome",
          "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement",
          "hypomagnesemia 5, renal, with ocular involvement",
          "hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement",
          "hypomagnesemia, renal, with ocular involvement",
          "idiopathic hypercalciuria with bilateral macular colobomata",
          "macular coloboma, bilateral, with hypercalciuria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009548"
    },
    {
      "id": 10772,
      "label": "renal hypomagnesemia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3772,
        8001,
        17901
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009550"
    }
  ],
  "roots": [
    {
      "id": 18259,
      "label": "familial primary hypomagnesemia"
    }
  ]
}