{
  "id": 11120,
  "label": "pseudohypoaldosteronism, type IB1, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009917",
  "properties": {
    "xrefs": [
      "GARD:0004552",
      "MEDGEN:1823950",
      "OMIM:264350",
      "Orphanet:171876",
      "UMLS:C5774176"
    ],
    "synonyms": [
      "PHA1B",
      "autosomal recessive PHA 1",
      "autosomal recessive pseudohypoaldosteronism type 1",
      "generalised PHA1",
      "generalised pseudohypoaldosteronism type 1",
      "generalized PHA1",
      "generalized pseudohypoaldosteronism type 1",
      "PHA I, autosomal recessive",
      "pseudohypoaldosteronism type 1 autosomal recessive",
      "pseudohypoaldosteronism type 1, recessive",
      "pseudohypoaldosteronism, type I, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs."
  },
  "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"
    }
  ]
}