{
  "id": 3335,
  "label": "Fanconi renotubular syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001083",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 20667,
      "label": "renal tubule disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6948
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009566",
          "ICD9:588.89",
          "MEDGEN:57484",
          "SCTID:95568003",
          "UMLS:C0151747"
        ],
        "synonyms": [
          "disease of renal tubule",
          "disease or disorder of renal tubule",
          "disorder of renal tubule",
          "renal tubular disease",
          "renal tubular disorder",
          "renal tubule disease",
          "renal tubule disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A disease that involves the renal tubule."
      },
      "child_count": 4,
      "reference_id": "MONDO:0021568"
    }
  ],
  "children": [
    {
      "id": 21068,
      "label": "Deal Barratt Dillon syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3335
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001717",
          "MEDGEN:444139",
          "MESH:C538206",
          "UMLS:C2931773"
        ],
        "synonyms": [
          "Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhea",
          "Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022948"
    },
    {
      "id": 23755,
      "label": "adult Fanconi syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3335
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026009",
          "MEDGEN:137960",
          "NCIT:C4377",
          "UMLS:C0341703"
        ],
        "synonyms": [
          "adult Fanconi syndrome",
          "adult Fanconi's syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired."
      },
      "child_count": 0,
      "reference_id": "MONDO:0060778"
    },
    {
      "id": 23756,
      "label": "acquired Fanconi syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3335
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026010",
          "MEDGEN:90966",
          "NCIT:C78296",
          "SCTID:236467001",
          "UMLS:C0341702"
        ],
        "synonyms": [
          "acquired Fanconi syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Fanconi Syndrome caused by exposure to noxious agents."
      },
      "child_count": 1,
      "reference_id": "MONDO:0060779"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 8001,
      "label": "renal tubular transport disease"
    },
    {
      "id": 20667,
      "label": "renal tubule disorder"
    }
  ]
}