{
  "id": 29329,
  "label": "inherited distal renal tubular acidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060161",
  "properties": {
    "xrefs": [
      "GARD:0028168",
      "OMIMPS:179800"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "A form of distal renal tubular acidosis that is inherited."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16574,
      "label": "distal renal tubular acidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6948
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004667",
          "HP:0008341",
          "ICD9:588.89",
          "MEDGEN:853429",
          "MedDRA:10045224",
          "NORD:1969",
          "Orphanet:18",
          "SCTID:236461000",
          "UMLS:C1704380"
        ],
        "synonyms": [
          "Primary Distal Renal Tubular Acidosis",
          "classic RTA",
          "dRTA",
          "distal renal tubular acidosis (disease)",
          "familial distal primary acidosis",
          "renal tubular acidosis type 1",
          "renal tubular acidosis, distal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A kidney disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis is often associated with hypokalemia whereas acquired form may be associated with hypokalemia, hyperkalemia or normokalemia."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015827"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6948
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "genetic renal disease",
          "inherited kidney disease",
          "inherited renal disorder",
          "nephrogenetic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system."
      },
      "child_count": 52,
      "reference_id": "MONDO:0100191"
    }
  ],
  "children": [
    {
      "id": 9668,
      "label": "autosomal dominant distal renal tubular acidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        29329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004668",
          "OMIM:179800",
          "Orphanet:93608"
        ],
        "synonyms": [
          "AD dRTA",
          "DRTA1",
          "RTA, classic type",
          "RTA, distal type, autosomal dominant",
          "RTA, gradient type",
          "distal renal tubular acidosis (disease), autosomal dominant",
          "renal tubular acidosis, distal 1",
          "autosomal dominant SLC4A1-associated distal renal tubular acidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A distal renal tubular acidosis that is caused by the mutation in SLC4A1 gene and follows the autosomal dominant inheritance. It is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, nephrolithiasis, and metabolic bone disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008368"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 16574,
      "label": "distal renal tubular acidosis"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}