{
  "id": 11169,
  "label": "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009968",
  "properties": {
    "xrefs": [
      "GARD:0015229",
      "ICD9:389.8",
      "ICD9:588.89",
      "MEDGEN:98336",
      "MESH:C562897",
      "OMIM:267300",
      "Orphanet:93611",
      "SCTID:236532003",
      "SCTID:722468005",
      "UMLS:C0403554"
    ],
    "synonyms": [
      "distal renal tubular acidosis 2 with progressive sensorineural hearing loss",
      "distal renal tubular acidosis co-occurrent with sensorineural deafness",
      "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss",
      "renal tubular acidosis, distal, with progressive nerve deafness",
      "AR dRTA with deafness",
      "AR dRTA with hearing loss",
      "RTA with progressive nerve deafness",
      "autosomal recessive distal renal tubular acidosis with deafness",
      "autosomal recessive distal renal tubular acidosis with hearing loss",
      "renal tubular acidosis progressive nerve deafness",
      "renal tubular acidosis type 1b",
      "renal tubular acidosis with deafness",
      "renal tubular acidosis with progressive nerve deafness",
      "renal tubular acidosis, autosomal recessive, with progressive nerve deafness"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18488,
      "label": "autosomal recessive distal renal tubular acidosis"
    }
  ]
}