{
  "id": 25451,
  "label": "pseudohypoaldosteronism, type IB3, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0859318",
  "properties": {
    "xrefs": [
      "GARD:0026694",
      "MEDGEN:1824029",
      "OMIM:620126",
      "UMLS:C5774256"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19038,
      "label": "pseudohypoaldosteronism type 1"
    }
  ]
}