{
  "id": 8001,
  "label": "renal tubular transport disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0006510",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "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": 9629,
      "label": "Liddle syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        8001,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050477",
          "GARD:0007381",
          "MEDGEN:67439",
          "MESH:D056929",
          "MedDRA:10037113",
          "MedDRA:10052313",
          "NANDO:2100131",
          "NANDO:2200363",
          "NCIT:C84827",
          "NORD:2034",
          "OMIMPS:177200",
          "Orphanet:526",
          "SCTID:707747007",
          "UMLS:C0221043"
        ],
        "synonyms": [
          "Liddle syndrome",
          "pseudoaldosteronism",
          "pseudohyperaldosteronism type 1",
          "LIDLS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone."
      },
      "child_count": 9,
      "reference_id": "MONDO:0008323"
    },
    {
      "id": 10536,
      "label": "familial renal glucosuria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8001,
        19091,
        23932
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009297"
    },
    {
      "id": 10772,
      "label": "renal hypomagnesemia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3772,
        8001,
        17901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060880",
          "GARD:0002906",
          "MEDGEN:120640",
          "MESH:C537153",
          "OMIM:248250",
          "Orphanet:31043",
          "SCTID:725033008",
          "UMLS:C0268448"
        ],
        "synonyms": [
          "CLDN16 familial primary hypomagnesemia",
          "CLDN16 primary hypomagnesemia",
          "FHHNC without severe ocular involvement",
          "HOMG3",
          "familial primary hypomagnesemia caused by mutation in CLDN16",
          "primary hypomagnesemia caused by mutation in CLDN16",
          "renal hypomagnesemia type 3",
          "hypercalciuria, childhood, self-limiting",
          "hypomagnesemia 3, renal",
          "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis",
          "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included",
          "hypomagnesemia, isolated renal",
          "hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium",
          "hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium",
          "magnesium, defect in renal tubular transport of"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009550"
    },
    {
      "id": 11107,
      "label": "Gitelman syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        8001,
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050450",
          "GARD:0008547",
          "ICD9:275.49",
          "MEDGEN:75681",
          "MESH:D053579",
          "MedDRA:10062906",
          "NANDO:2100020",
          "NANDO:2200145",
          "NCIT:C84730",
          "NORD:1884",
          "OMIM:263800",
          "Orphanet:358",
          "SCTID:707756004",
          "UMLS:C0268450"
        ],
        "synonyms": [
          "Gitelman syndrome",
          "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria",
          "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria",
          "GTLMNS",
          "Gitelman's syndrome",
          "Potassium and magnesium depletion",
          "familial hypokalemia-hypomagnesemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009904"
    },
    {
      "id": 16122,
      "label": "Bartter syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        8001,
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:445",
          "GARD:0005893",
          "ICD10CM:E26.81",
          "ICD9:255.13",
          "MEDGEN:2172",
          "MESH:D001477",
          "MedDRA:10050839",
          "NANDO:2100021",
          "NANDO:2200146",
          "NCIT:C34412",
          "NORD:842",
          "OMIMPS:601678",
          "Orphanet:112",
          "SCTID:707742001",
          "UMLS:C0004775",
          "icd11.foundation:777233947"
        ],
        "synonyms": [
          "Bartter disease",
          "Bartter's syndrome",
          "hypokalemic alkalosis",
          "renal tubular normotensive hypokalemic alkalosis with hypercalciuria",
          "salt-losing tubular disorder, Henle's loop type",
          "salt-wasting tubulopathy, Henle's loop type",
          "Potassium wasting",
          "hypokalemic alkalosis with hypercalciuria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II."
      },
      "child_count": 18,
      "reference_id": "MONDO:0015231"
    },
    {
      "id": 16406,
      "label": "Dent disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8001,
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050699",
          "GARD:0013105",
          "MEDGEN:168056",
          "MESH:D057973",
          "MedDRA:10069199",
          "NCIT:C123260",
          "NORD:1040",
          "OMIMPS:300009",
          "Orphanet:1652",
          "SCTID:444645005",
          "UMLS:C0878681",
          "icd11.foundation:1762998355"
        ],
        "synonyms": [
          "Dent syndrome",
          "X-linked recessive hypercalciuric hypophosphatemic rickets",
          "X-linked recessive hypophosphatemic rickets",
          "X-linked recessive nephrolithiasis",
          "low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis",
          "renal Fanconi syndrome with nephrocalcinosis and renal stones",
          "Dent disease 1",
          "Dent disease 2",
          "Dents disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015612"
    },
    {
      "id": 18635,
      "label": "pseudohypoaldosteronism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4479",
          "GARD:0021861",
          "ICD9:255.8",
          "MEDGEN:18721",
          "MESH:D011546",
          "NANDO:2100133",
          "NANDO:2200367",
          "NCIT:C85034",
          "Orphanet:444916",
          "SCTID:77098009",
          "UMLS:C0033805"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018638"
    }
  ],
  "roots": [
    {
      "id": 6948,
      "label": "kidney disorder"
    }
  ]
}