{
  "id": 4081,
  "label": "renal tubular acidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001909",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 7610,
      "label": "acidosis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23030
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000014",
          "HP:0001941",
          "ICD10CM:E87.2",
          "ICD9:276.2",
          "MEDGEN:1296",
          "SCTID:51387008",
          "UMLS:C0001122"
        ],
        "synonyms": [
          "acidosis"
        ],
        "definition": "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic."
      },
      "child_count": 3,
      "reference_id": "MONDO:0006022"
    },
    {
      "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": 9669,
      "label": "proximal renal tubular acidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061165",
          "GARD:0016644",
          "ICD9:588.89",
          "MEDGEN:82804",
          "MedDRA:10037080",
          "OMIM:179830",
          "Orphanet:47159",
          "SCTID:24790002",
          "UMLS:C0268435"
        ],
        "synonyms": [
          "Type 2 RTA",
          "Type 2 renal tubular acidosis",
          "pRTA",
          "renal tubular acidosis type 2",
          "RTA, proximal type",
          "RTA, rate type",
          "renal tubular acidosis 2",
          "renal tubular acidosis, proximal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008369"
    },
    {
      "id": 11168,
      "label": "renal tubular acidosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015228",
          "MEDGEN:336601",
          "MESH:C537759",
          "OMIM:267200",
          "UMLS:C1849435"
        ],
        "synonyms": [
          "RTA, bicarbonate-wasting type",
          "RTA, dislocation type",
          "renal tubular acidosis 3",
          "renal tubular acidosis III",
          "bicarbonate-wasting RTA",
          "renal tubular acidosis, distal, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009967"
    },
    {
      "id": 12388,
      "label": "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4081,
        16626,
        18488,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061166",
          "GARD:0015350",
          "MEDGEN:1732975",
          "OMIM:602722",
          "UMLS:C5399980"
        ],
        "synonyms": [
          "classical distal RTA",
          "classical distal renal tubular acidosis",
          "distal renal tubular acidosis 3, with or without sensorineural hearing loss",
          "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",
          "renal tubular acidosis, distal, autosomal recessive",
          "type 1 RTA",
          "type 1 renal tubular acidosis",
          "RTA, distal, autosomal recessive",
          "RTADR",
          "renal tubular acidosis, autosomal recessive with preserved hearing",
          "renal tubular acidosis, autosomal recessive, with preserved hearing",
          "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss",
          "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011268"
    },
    {
      "id": 23114,
      "label": "neuroaxonal dystrophy renal tubular acidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4081,
        4397
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000349",
          "MEDGEN:419816",
          "MESH:C537386",
          "UMLS:C2931479"
        ],
        "synonyms": [
          "CNS disorder characterised by severe behavioural retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr",
          "CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr",
          "Maccario Mena weir syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043075"
    },
    {
      "id": 23903,
      "label": "hyperkalemic renal tubular acidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4081
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027992",
          "MEDGEN:87662",
          "Orphanet:89939",
          "UMLS:C0376185"
        ],
        "synonyms": [
          "hyperkalemic RTA",
          "renal tubular acidosis type 4",
          "type 4 RTA",
          "type 4 renal tubular acidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100161"
    }
  ],
  "roots": [
    {
      "id": 7610,
      "label": "acidosis disorder"
    },
    {
      "id": 8001,
      "label": "renal tubular transport disease"
    },
    {
      "id": 20667,
      "label": "renal tubule disorder"
    }
  ]
}