{
  "id": 9669,
  "label": "proximal renal tubular acidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008369",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 12527,
      "label": "autosomal recessive proximal renal tubular acidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        9669,
        16626,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061167",
          "GARD:0016826",
          "MEDGEN:370883",
          "MESH:C567038",
          "OMIM:604278",
          "Orphanet:93607",
          "UMLS:C1970309"
        ],
        "synonyms": [
          "AR pRTA",
          "proximal renal tubular acidosis with ocular abnormalities and intellectual disability",
          "proximal renal tubular acidosis, autosomal recessive",
          "renal tubular acidosis, proximal, with ocular abnormalities",
          "RTA, proximal, autosomal recessive",
          "renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability",
          "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011422"
    },
    {
      "id": 18047,
      "label": "autosomal dominant proximal renal tubular acidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        9669,
        16626,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021394",
          "MEDGEN:1842780",
          "Orphanet:314889",
          "UMLS:C5679902"
        ],
        "synonyms": [
          "AD pRTA",
          "proximal renal tubular acidosis, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017829"
    }
  ],
  "roots": [
    {
      "id": 4081,
      "label": "renal tubular acidosis"
    }
  ]
}