{
  "id": 8970,
  "label": "primary Fanconi syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007600",
  "properties": {
    "xrefs": [
      "GARD:0009118",
      "MEDGEN:341765",
      "NCIT:C123229",
      "Orphanet:3337",
      "UMLS:C1857395"
    ],
    "synonyms": [
      "FRTS1",
      "Fanconi renotubular syndrome 1",
      "primary Fanconi renotubular syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 23978,
      "label": "inherited Fanconi renotubular syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3335,
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026093",
          "OMIMPS:134600"
        ],
        "synonyms": [
          "hereditary Fanconi renotubular syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An instance of Fanconi renotubular syndrome that is inherited."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100238"
    }
  ],
  "children": [
    {
      "id": 14283,
      "label": "Fanconi renotubular syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8970
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080758",
          "GARD:0015655",
          "MEDGEN:462002",
          "OMIM:613388",
          "UMLS:C3150652"
        ],
        "synonyms": [
          "Fanconi renotubular syndrome 2",
          "Fanconi renotubular syndrome type 2",
          "Fanconi syndrome caused by mutation in SLC34A1",
          "SLC34A1 Fanconi syndrome",
          "FRTS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013247"
    },
    {
      "id": 15280,
      "label": "Fanconi renotubular syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8970
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080759",
          "GARD:0015991",
          "MEDGEN:816430",
          "OMIM:615605",
          "UMLS:C3810100"
        ],
        "synonyms": [
          "EHHADH Fanconi syndrome",
          "Fanconi renotubular syndrome 3",
          "Fanconi renotubular syndrome type 3",
          "Fanconi syndrome caused by mutation in EHHADH",
          "FRTS3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014275"
    },
    {
      "id": 21471,
      "label": "Fanconi renotubular syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8970
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080757",
          "GARD:0025412",
          "MEDGEN:1635492",
          "OMIM:134600",
          "UMLS:C4551503"
        ],
        "synonyms": [
          "DeToni-Debré-Fanconi syndrome",
          "FRTS1",
          "Fanconi renotubular syndrome 1",
          "primary Fanconi renal syndrome",
          "primary Fanconi renotubular syndrome",
          "Fanconi renotubular syndrome",
          "Fanconi syndrome without cystinosis",
          "Luder-Sheldon syndrome",
          "adult Fanconi syndrome",
          "renal Fanconi syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024525"
    }
  ],
  "roots": [
    {
      "id": 23978,
      "label": "inherited Fanconi renotubular syndrome"
    }
  ]
}