{
  "id": 24072,
  "label": "Bartter disease type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100344",
  "properties": {
    "xrefs": [
      "DOID:0110142",
      "GARD:0022482",
      "MEDGEN:355727",
      "MESH:C537652",
      "OMIM:601678",
      "Orphanet:620217",
      "SCTID:700107006",
      "UMLS:C1866495"
    ],
    "synonyms": [
      "Bartter syndrome, furosemide type",
      "Bartter syndrome, furosemide-amiloride type",
      "hyperprostaglandin E syndrome",
      "BARTS1",
      "Bartter disease type 1",
      "Bartter syndrome caused by mutation in SLC12A1",
      "Bartter syndrome type 1",
      "Bartter syndrome, type 1",
      "SLC12A1 Bartter syndrome",
      "hyperprostaglandin E syndrome 1",
      "Bartter syndrome antenatal type 1",
      "Bartter syndrome, antenatal, type 1",
      "Bartter syndrome, type 1, antenatal",
      "antenatal Bartter syndrome",
      "antenatal Bartter syndrome type 1",
      "hypokalemic alkalosis with hypercalciuria 1, antenatal",
      "hypokalemic alkalosis with hypercalciuria antenatal 1",
      "hypokalemic alkalosis with hypercalciuria, antenatal, 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "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"
    }
  ]
}