{
  "id": 3182,
  "label": "Bartter disease type 4B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000909",
  "properties": {
    "xrefs": [
      "DOID:0110146",
      "GARD:0015612",
      "MEDGEN:934772",
      "OMIM:613090",
      "UMLS:C4310805"
    ],
    "synonyms": [
      "BARTS4B",
      "Bartter disease type 4B",
      "Bartter syndrome, type 4B",
      "Bartter syndrome, infantile, with sensorineural deafness",
      "Bartter syndrome, type 4B, neonatal, with sensorineural deafness"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19334,
      "label": "Bartter syndrome type 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16122
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010508",
          "MEDGEN:824706",
          "Orphanet:89938",
          "SCTID:700112007",
          "UMLS:C3838860",
          "icd11.foundation:959024909"
        ],
        "synonyms": [
          "Bartter syndrome type 4",
          "Bartter syndrome type IV",
          "Bartter syndrome with sensorineural deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019524"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19334,
      "label": "Bartter syndrome type 4"
    }
  ]
}