{
  "id": 10655,
  "label": "Bartter disease type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009424",
  "properties": {
    "xrefs": [
      "DOID:0110143",
      "GARD:0022483",
      "MEDGEN:343428",
      "MESH:C537651",
      "OMIM:241200",
      "Orphanet:620220",
      "SCTID:700109009",
      "UMLS:C1855849"
    ],
    "synonyms": [
      "BARTS2",
      "Bartter disease type 2",
      "Bartter syndrome caused by mutation in KCNJ1",
      "Bartter syndrome type 2",
      "Bartter syndrome, type 2",
      "KCNJ1 Bartter syndrome",
      "hyperprostaglandin E syndrome 2",
      "Bartter syndrome antenatal type 2",
      "Bartter syndrome, antenatal, type 2",
      "Bartter syndrome, type 2, antenatal",
      "hypokalemic alkalosis with hypercalciuria 2, antenatal",
      "hypokalemic alkalosis with hypercalciuria antenatal 2",
      "hypokalemic alkalosis with hypercalciuria, antenatal, 2"
    ],
    "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 KCNJ1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 16122,
      "label": "Bartter syndrome"
    }
  ]
}