{
  "id": 16122,
  "label": "Bartter syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015231",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 8001,
      "label": "renal tubular transport disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6948
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:447",
          "EFO:1000647",
          "MEDGEN:19728",
          "MESH:D015499",
          "UMLS:C0035091"
        ],
        "synonyms": [
          "disorder of renal absorption",
          "renal absorption disease",
          "kidney tubular transport, inborn error",
          "kidney tubular transport, inborn errors",
          "renal tubular transport errors",
          "renal tubular transport, inborn error"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Genetic defects in the selective or non-selective transport functions of the kidney tubules."
      },
      "child_count": 9,
      "reference_id": "MONDO:0006510"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    }
  ],
  "children": [
    {
      "id": 10655,
      "label": "Bartter disease type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16122
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009424"
    },
    {
      "id": 11661,
      "label": "Bartter disease type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16122
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010503"
    },
    {
      "id": 12903,
      "label": "Bartter disease type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16122
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110144",
          "GARD:0009659",
          "MEDGEN:335399",
          "OMIM:607364",
          "Orphanet:93605",
          "SCTID:700111000",
          "UMLS:C1846343"
        ],
        "synonyms": [
          "BARTS3",
          "Bartter disease type 3",
          "Bartter syndrome type 3",
          "Bartter syndrome type III",
          "adult Bartter syndrome",
          "Bartter syndrome classic",
          "Bartter syndrome, classic",
          "Bartter syndrome, type 3",
          "Bartter syndrome, type 3, with hypocalciuria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011822"
    },
    {
      "id": 17395,
      "label": "Bartter syndrome with hypocalcemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16122
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025084",
          "MEDGEN:1645787",
          "Orphanet:263417",
          "UMLS:C4552089"
        ],
        "synonyms": [
          "Bartter syndrome type 5",
          "Bartter syndrome type V"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0016983"
    },
    {
      "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"
    },
    {
      "id": 24072,
      "label": "Bartter disease type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16122
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100344"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 8001,
      "label": "renal tubular transport disease"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    }
  ]
}