{
  "id": 3643,
  "label": "primary aldosteronism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001422",
  "properties": {
    "xrefs": [
      "DOID:12028",
      "ICD10CM:E26.0",
      "ICD10CM:E26.01",
      "ICD9:255.12",
      "MEDGEN:278002",
      "NANDO:2200361",
      "NCIT:C34510",
      "SCTID:190507007",
      "UMLS:C1384514",
      "icd11.foundation:197924221"
    ],
    "synonyms": [
      "Conn syndrome",
      "Conn's syndrome",
      "primary aldosteronism",
      "primary hyperaldosteronism"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 5007,
      "label": "hyperaldosteronism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8112
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:446",
          "EFO:0009452",
          "ICD10CM:E26",
          "ICD10WHO:E26",
          "ICD9:255.1",
          "ICD9:255.10",
          "MEDGEN:6960",
          "MESH:D006929",
          "SCTID:88213004",
          "UMLS:C0020428",
          "icd11.foundation:1937534076"
        ],
        "synonyms": [
          "primary hyperaldosteronism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia."
      },
      "child_count": 1,
      "reference_id": "MONDO:0003009"
    }
  ],
  "children": [
    {
      "id": 17009,
      "label": "primary unilateral adrenal hyperplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3643
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020620",
          "MEDGEN:905007",
          "Orphanet:231580",
          "SCTID:715868005",
          "UMLS:C4274967",
          "icd11.foundation:1653668765"
        ],
        "synonyms": [
          "PUAH"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016504"
    },
    {
      "id": 17010,
      "label": "aldosterone-producing adrenal cortex adenoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3643,
        5783
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000015",
          "GARD:0020621",
          "MEDGEN:353374",
          "MedDRA:10056950",
          "NCIT:C48451",
          "Orphanet:231625",
          "UMLS:C1706762"
        ],
        "synonyms": [
          "APAC",
          "Pure APAC",
          "Pure aldosterone-producing adrenocortical carcinoma",
          "Pure aldosterone-secreting adrenocortical carcinoma",
          "aldosterone producing adrenal cortex adenoma",
          "aldosterone producing adrenal cortical adenoma",
          "aldosterone-producing adrenal cortex adenoma",
          "adrenocortical carcinoma with pure aldosterone hypersecretion"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016505"
    },
    {
      "id": 17011,
      "label": "ectopic aldosterone-producing tumor",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3643
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020622",
          "MEDGEN:1654612",
          "Orphanet:231632",
          "UMLS:C4755311"
        ],
        "synonyms": [
          "Extra-adrenal aldosterone-producing tumor",
          "Extra-adrenal aldosterone-producing tumour"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016506"
    },
    {
      "id": 17022,
      "label": "familial hyperaldosteronism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3643,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020630",
          "MEDGEN:780028",
          "MESH:C580087",
          "NANDO:2200602",
          "NCIT:C127160",
          "OMIMPS:103900",
          "Orphanet:235936",
          "Orphanet:371861",
          "SCTID:703231005",
          "UMLS:C3713420",
          "icd11.foundation:1586992015"
        ],
        "synonyms": [
          "FH",
          "genetic hyperaldosteronism",
          "hereditary hyperaldosteronism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol."
      },
      "child_count": 10,
      "reference_id": "MONDO:0016525"
    }
  ],
  "roots": [
    {
      "id": 5007,
      "label": "hyperaldosteronism"
    }
  ]
}