{
  "id": 10536,
  "label": "familial renal glucosuria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009297",
  "properties": {
    "xrefs": [
      "DOID:0070613",
      "DOID:9432",
      "GARD:0007548",
      "ICD9:271.4",
      "MEDGEN:757652",
      "MESH:D006030",
      "MedDRA:10038457",
      "NORD:1658",
      "OMIM:233100",
      "Orphanet:69076",
      "SCTID:267430007",
      "UMLS:C3245525",
      "icd11.foundation:381783069"
    ],
    "synonyms": [
      "Renal Glycosuria",
      "SGLT2 deficiency",
      "familial renal glucosuria",
      "GLYS",
      "Glys1",
      "glycosuria, renal",
      "renal glucosuria",
      "renal glycosuria"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19091,
      "label": "glucose transport disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17944,
        23511
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018957",
          "MEDGEN:1842427",
          "Orphanet:79178",
          "UMLS:C5389835"
        ],
        "synonyms": [
          "inborn error of glucose transport",
          "rare inborn error of glucose transport"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of glucose transport."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019226"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6948
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "genetic renal disease",
          "inherited kidney disease",
          "inherited renal disorder",
          "nephrogenetic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system."
      },
      "child_count": 52,
      "reference_id": "MONDO:0100191"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8001,
      "label": "renal tubular transport disease"
    },
    {
      "id": 19091,
      "label": "glucose transport disorder"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}