{
  "id": 9634,
  "label": "autosomal dominant pseudohypoaldosteronism type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008329",
  "properties": {
    "xrefs": [
      "DOID:0060855",
      "GARD:0009145",
      "MEDGEN:260623",
      "NCIT:C126810",
      "OMIM:177735",
      "Orphanet:171871",
      "UMLS:C1449842"
    ],
    "synonyms": [
      "PHA1A",
      "autosomal dominant pseudohypoaldosteronism type 1",
      "pseudohypoaldosteronism type i, autosomal dominant",
      "PHA I, autosomal dominant",
      "pseudohypoaldosteronism type 1 autosomal dominant",
      "pseudohypoaldosteronism type 1, dominant",
      "pseudohypoaldosteronism, type I, autosomal dominant",
      "renal PHA1",
      "renal pseudohypoaldosteronism type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19038,
      "label": "pseudohypoaldosteronism type 1"
    }
  ]
}