{
  "id": 9668,
  "label": "autosomal dominant distal renal tubular acidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008368",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 29329,
      "label": "inherited distal renal tubular acidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16574,
        23932
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:1060161"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 29329,
      "label": "inherited distal renal tubular acidosis"
    }
  ]
}