{
  "id": 19038,
  "label": "pseudohypoaldosteronism type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019161",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    },
    {
      "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": 9634,
      "label": "autosomal dominant pseudohypoaldosteronism type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19038
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008329"
    },
    {
      "id": 11120,
      "label": "pseudohypoaldosteronism, type IB1, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19038
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009917"
    },
    {
      "id": 25450,
      "label": "pseudohypoaldosteronism, type IB2, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        19038
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026693",
          "MEDGEN:1824028",
          "OMIM:620125",
          "UMLS:C5774255"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859317"
    },
    {
      "id": 25451,
      "label": "pseudohypoaldosteronism, type IB3, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        19038
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026694",
          "MEDGEN:1824029",
          "OMIM:620126",
          "UMLS:C5774256"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859318"
    }
  ],
  "roots": [
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    },
    {
      "id": 24056,
      "label": "inherited pseudohypoaldosteronism"
    }
  ]
}