{
  "id": 12362,
  "label": "Bartter disease type 4A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011242",
  "properties": {
    "xrefs": [
      "DOID:0110145",
      "GARD:0015348",
      "MEDGEN:355430",
      "OMIM:602522",
      "SCTID:717791000",
      "UMLS:C1865270"
    ],
    "synonyms": [
      "BARTS4A",
      "BSND",
      "BSND Bartter syndrome",
      "Bartter disease type 4a",
      "Bartter syndrome caused by mutation in BSND",
      "Bartter syndrome, infantile, with sensorineural deafness",
      "Bartter syndrome, neonatal, with sensorineural deafness",
      "Bartter syndrome, type 4A",
      "Bartter syndrome, type 4A, neonatal, with sensorineural deafness",
      "sensorineural deafness with mild renal dysfunction"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene."
  },
  "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"
    }
  ]
}