{
  "id": 10770,
  "label": "renal hypomagnesemia 5 with ocular involvement",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009548",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19765,
      "label": "hereditary macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025154",
          "MEDGEN:137919",
          "NANDO:1200931",
          "NCIT:C140264",
          "Orphanet:98664",
          "SCTID:276436007",
          "UMLS:C0339508"
        ],
        "synonyms": [
          "genetic macular dystrophy",
          "genetic macular dystrophy (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Macular dystrophy that is related to a change in a gene."
      },
      "child_count": 17,
      "reference_id": "MONDO:0020242"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17901,
      "label": "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis"
    },
    {
      "id": 19765,
      "label": "hereditary macular dystrophy"
    }
  ]
}