{
  "id": 23978,
  "label": "inherited Fanconi renotubular syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100238",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3335,
      "label": "Fanconi renotubular syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        8001,
        20667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1062",
          "GARD:0009120",
          "MEDGEN:4653",
          "MESH:D005198",
          "NANDO:2100027",
          "NANDO:2200187",
          "NCIT:C3034",
          "SCTID:236466005",
          "SCTID:40488004",
          "UMLS:C0015624",
          "icd11.foundation:788002727"
        ],
        "synonyms": [
          "De toni-debre-Fanconi syndrome",
          "Fanconi syndrome",
          "Fanconi's syndrome",
          "Fanconi-de toni syndrome",
          "Lignac-Fanconi syndrome",
          "adult Fanconi syndrome",
          "congenital Fanconi syndrome",
          "infantile nephropathic cystinosis",
          "toni-debre-Fanconi syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients."
      },
      "child_count": 12,
      "reference_id": "MONDO:0001083"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    }
  ],
  "children": [
    {
      "id": 8970,
      "label": "primary Fanconi syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23978
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0007600"
    },
    {
      "id": 15458,
      "label": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838,
        23978
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080760",
          "GARD:0016048",
          "MEDGEN:863399",
          "OMIM:616026",
          "UMLS:C4014962"
        ],
        "synonyms": [
          "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young",
          "Fanconi syndrome caused by mutation in HNF4A",
          "HNF4A Fanconi syndrome",
          "fanconi renotubular syndrome 4, with maturity-onset diabetes of the young",
          "FRTS4",
          "FRTS4 with MODY"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014458"
    },
    {
      "id": 21832,
      "label": "Fanconi renotubular syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23978
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080761",
          "GARD:0016392",
          "MEDGEN:1711127",
          "OMIM:618913",
          "UMLS:C5394473"
        ],
        "synonyms": [
          "FANCONI RENOTUBULAR SYNDROME 5",
          "FRTS5",
          "Fanconi Renotubular Syndrome, Acadian Variant",
          "Fanconi renotubular syndrome 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030056"
    }
  ],
  "roots": [
    {
      "id": 3335,
      "label": "Fanconi renotubular syndrome"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    }
  ]
}