{
  "id": 19039,
  "label": "pseudohypoaldosteronism type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019162",
  "properties": {
    "xrefs": [
      "GARD:0004553",
      "ICD9:588.89",
      "MEDGEN:259599",
      "NANDO:2200369",
      "NCIT:C123252",
      "OMIMPS:145260",
      "Orphanet:757",
      "SCTID:15689008",
      "UMLS:C1449844",
      "icd11.foundation:715347509"
    ],
    "synonyms": [
      "Gordon hyperkalemia-hypertension syndrome",
      "PHA2",
      "PHAII",
      "Spitzer-Weinstein syndrome",
      "chloride shunt syndrome",
      "familial hyperkalemic hypertension",
      "hyperkalemia-hypertension syndrome, Gordon type",
      "hypertensive hyperkalemia",
      "mineralocorticoid resistant hyperkalemia",
      "pseudohypoaldosteronism, type 2",
      "pseudohypoaldosteronism, type II",
      "Gordon syndrome",
      "hyperpotassemia and hypertension familial"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 24056,
      "label": "inherited pseudohypoaldosteronism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18635,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026144"
        ],
        "synonyms": [
          "hereditary pseudohypoaldosteronism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100323"
    }
  ],
  "children": [
    {
      "id": 9121,
      "label": "pseudohypoaldosteronism type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19039
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016775",
          "MEDGEN:327088",
          "OMIM:145260",
          "Orphanet:88938",
          "SCTID:703254001",
          "UMLS:C1840389",
          "icd11.foundation:646091849"
        ],
        "synonyms": [
          "PHA2A",
          "Gordon hyperkalemia-hypertension syndrome",
          "hyperpotassemia and hypertension, familial",
          "hypertensive hyperkalemia, familial",
          "pseudohypoaldosteronism, type IIA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007772"
    },
    {
      "id": 14795,
      "label": "pseudohypoaldosteronism type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19039
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016776",
          "MEDGEN:374457",
          "MESH:C564161",
          "OMIM:614491",
          "Orphanet:88939",
          "UMLS:C1840390",
          "icd11.foundation:853594829"
        ],
        "synonyms": [
          "PHA2B",
          "WNK4 pseudohypoaldosteronism type 2",
          "pseudohypoaldosteronism type 2 caused by mutation in WNK4",
          "pseudohypoaldosteronism, type 2B",
          "pseudohypoaldosteronism, type IIB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013777"
    },
    {
      "id": 14796,
      "label": "pseudohypoaldosteronism type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19039
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016777",
          "MEDGEN:327089",
          "MESH:C564162",
          "OMIM:614492",
          "Orphanet:88940",
          "UMLS:C1840391",
          "icd11.foundation:1052840113"
        ],
        "synonyms": [
          "PHA2C",
          "WNK1 pseudohypoaldosteronism type 2",
          "pseudohypoaldosteronism type 2 caused by mutation in WNK1",
          "pseudohypoaldosteronism, type 2C",
          "pseudohypoaldosteronism, type IIC"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013778"
    },
    {
      "id": 14799,
      "label": "pseudohypoaldosteronism type 2D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19039
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017372",
          "MEDGEN:483335",
          "OMIM:614495",
          "Orphanet:300525",
          "UMLS:C3469605",
          "icd11.foundation:1679339588"
        ],
        "synonyms": [
          "KLHL3 pseudohypoaldosteronism type 2",
          "PHA2D",
          "pseudohypoaldosteronism type 2 caused by mutation in KLHL3",
          "familial hyperkalemic hypertension",
          "pseudohypoaldosteronism, type 2D",
          "pseudohypoaldosteronism, type IID"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013781"
    },
    {
      "id": 14800,
      "label": "pseudohypoaldosteronism type 2E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19039
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017373",
          "MEDGEN:483336",
          "OMIM:614496",
          "Orphanet:300530",
          "UMLS:C3469606",
          "icd11.foundation:1263491925"
        ],
        "synonyms": [
          "CUL3 pseudohypoaldosteronism type 2",
          "Cul3 pseudohypoaldosteronism type 2",
          "PHA2E",
          "pseudohypoaldosteronism type 2 caused by mutation in CUL3",
          "pseudohypoaldosteronism type 2 caused by mutation in Cul3",
          "pseudohypoaldosteronism, type 2E",
          "pseudohypoaldosteronism, type IIE"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013782"
    }
  ],
  "roots": [
    {
      "id": 24056,
      "label": "inherited pseudohypoaldosteronism"
    }
  ]
}