{
  "id": 19334,
  "label": "Bartter syndrome type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019524",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16122,
      "label": "Bartter syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        8001,
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:445",
          "GARD:0005893",
          "ICD10CM:E26.81",
          "ICD9:255.13",
          "MEDGEN:2172",
          "MESH:D001477",
          "MedDRA:10050839",
          "NANDO:2100021",
          "NANDO:2200146",
          "NCIT:C34412",
          "NORD:842",
          "OMIMPS:601678",
          "Orphanet:112",
          "SCTID:707742001",
          "UMLS:C0004775",
          "icd11.foundation:777233947"
        ],
        "synonyms": [
          "Bartter disease",
          "Bartter's syndrome",
          "hypokalemic alkalosis",
          "renal tubular normotensive hypokalemic alkalosis with hypercalciuria",
          "salt-losing tubular disorder, Henle's loop type",
          "salt-wasting tubulopathy, Henle's loop type",
          "Potassium wasting",
          "hypokalemic alkalosis with hypercalciuria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II."
      },
      "child_count": 18,
      "reference_id": "MONDO:0015231"
    }
  ],
  "children": [
    {
      "id": 3182,
      "label": "Bartter disease type 4B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19334
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000909"
    },
    {
      "id": 12362,
      "label": "Bartter disease type 4A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19334
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011242"
    }
  ],
  "roots": [
    {
      "id": 16122,
      "label": "Bartter syndrome"
    }
  ]
}