{
  "id": 12388,
  "label": "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011268",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "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"
    },
    {
      "id": 18488,
      "label": "autosomal recessive distal renal tubular acidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        29329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004666",
          "MEDGEN:351142",
          "Orphanet:402041",
          "UMLS:C1864498"
        ],
        "synonyms": [
          "AR dRTA",
          "autosomal recessive distal RTA",
          "autosomal recessive distal renal tubular acidosis (disease)",
          "distal renal tubular acidosis (disease), autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "The autosomal recessive form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed."
      },
      "child_count": 6,
      "reference_id": "MONDO:0018440"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4081,
      "label": "renal tubular acidosis"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    },
    {
      "id": 18488,
      "label": "autosomal recessive distal renal tubular acidosis"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    }
  ]
}