{
  "id": 20667,
  "label": "renal tubule disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021568",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 6948,
      "label": "kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4253
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:557",
          "EFO:0003086",
          "ICD9:583.81",
          "MEDGEN:9635",
          "MESH:D007674",
          "NCIT:C3149",
          "SCTID:90708001",
          "UMLS:C0022658"
        ],
        "synonyms": [
          "disease of kidney",
          "disease or disorder of kidney",
          "disorder of kidney",
          "kidney disease",
          "kidney disease or disorder",
          "kidney disorder",
          "renal disease",
          "renal disorder",
          "nephropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A disease involving the kidney."
      },
      "child_count": 57,
      "reference_id": "MONDO:0005240"
    }
  ],
  "children": [
    {
      "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": 4081,
      "label": "renal tubular acidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7610,
        8001,
        20667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14219",
          "GARD:0007552",
          "ICD9:588.89",
          "MEDGEN:90",
          "MESH:D000141",
          "NANDO:2100019",
          "NANDO:2200144",
          "SCTID:1776003",
          "UMLS:C0001126",
          "icd11.foundation:1272869150"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets."
      },
      "child_count": 15,
      "reference_id": "MONDO:0001909"
    },
    {
      "id": 5009,
      "label": "mucinous tubular and spindle renal cell carcinoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6814,
        20667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4472",
          "GARD:0021418",
          "ICDO:0000/0",
          "MEDGEN:1640204",
          "NCIT:C39807",
          "ONCOTREE:MTSCC",
          "Orphanet:319322",
          "SCTID:764990003",
          "UMLS:C4707257"
        ],
        "synonyms": [
          "carcinoma, renal, tubular, malignant",
          "mucinous tubular and spindle cell carcinoma of the kidney",
          "mucinous tubular and spindle cell renal carcinoma",
          "renal mucinous tubular spindle cell carcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain."
      },
      "child_count": 0,
      "reference_id": "MONDO:0003011"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 6948,
      "label": "kidney disorder"
    }
  ]
}