{
  "id": 11661,
  "label": "Bartter disease type 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010503",
  "properties": {
    "xrefs": [
      "DOID:0110147",
      "GARD:0022308",
      "MEDGEN:934787",
      "OMIM:300971",
      "Orphanet:570371",
      "UMLS:C4310820"
    ],
    "synonyms": [
      "BARTS5",
      "Bartter syndrome caused by mutation in MAGED2",
      "Bartter syndrome, type 5, antenatal, transient",
      "Bartter syndrome, type 5, antenatal, transient, X-linked recessive",
      "MAGED2 Bartter syndrome"
    ],
    "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 MAGED2 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"
    }
  ]
}