{
  "id": 24056,
  "label": "inherited pseudohypoaldosteronism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100323",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18635,
      "label": "pseudohypoaldosteronism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4479",
          "GARD:0021861",
          "ICD9:255.8",
          "MEDGEN:18721",
          "MESH:D011546",
          "NANDO:2100133",
          "NANDO:2200367",
          "NCIT:C85034",
          "Orphanet:444916",
          "SCTID:77098009",
          "UMLS:C0033805"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018638"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6948
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "genetic renal disease",
          "inherited kidney disease",
          "inherited renal disorder",
          "nephrogenetic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system."
      },
      "child_count": 52,
      "reference_id": "MONDO:0100191"
    }
  ],
  "children": [
    {
      "id": 19038,
      "label": "pseudohypoaldosteronism type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16626,
        24056
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016545",
          "ICD9:275.8",
          "MEDGEN:82805",
          "NANDO:2200368",
          "NCIT:C123251",
          "OMIMPS:177735",
          "Orphanet:756",
          "SCTID:43941006",
          "UMLS:C0268436",
          "icd11.foundation:1576878036"
        ],
        "synonyms": [
          "PHA type 1",
          "pseudohypoaldosteronism, type I",
          "PHA1B",
          "pseudohypoaldosteronism type I autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019161"
    },
    {
      "id": 19039,
      "label": "pseudohypoaldosteronism type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24056
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 5,
      "reference_id": "MONDO:0019162"
    }
  ],
  "roots": [
    {
      "id": 18635,
      "label": "pseudohypoaldosteronism"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}