{
  "id": 17022,
  "label": "familial hyperaldosteronism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016525",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 3643,
      "label": "primary aldosteronism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5007
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0001422"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 8494,
      "label": "glucocorticoid-remediable aldosteronism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14080",
          "GARD:0002790",
          "ICD10CM:E26.02",
          "ICD9:255.11",
          "MEDGEN:824577",
          "MESH:C563177",
          "OMIM:103900",
          "Orphanet:403",
          "UMLS:C3838731"
        ],
        "synonyms": [
          "FH-I",
          "FH1",
          "GRA",
          "aldosteronism, glucocorticoid-remediable",
          "dexamethasone-sensitive hypertension",
          "familial hyperaldosteronism type 1",
          "glucocorticoid-remediable aldosteronism",
          "glucocorticoid-sensitive hypertension",
          "ACTH-dependent hyperaldosteronism syndrome",
          "FH 1",
          "HALD1",
          "aldosteronism, sensitive to dexamethasone",
          "dexamethasone sensitive hypertension",
          "familial hyperaldosteronism type I",
          "glucocorticoid sensitive hypertension",
          "glucocorticoid-suppressible hyperaldosteronism",
          "hyperaldosteronism, familial type 1",
          "hyperaldosteronism, familial, type 1",
          "hyperaldosteronism, familial, type I"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007080"
    },
    {
      "id": 12672,
      "label": "familial hyperaldosteronism type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17022,
        22943
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002789",
          "MEDGEN:340137",
          "MESH:C565312",
          "NCIT:C127162",
          "OMIM:605635",
          "Orphanet:404",
          "SCTID:703233008",
          "UMLS:C1854107"
        ],
        "synonyms": [
          "FH-II",
          "FH2",
          "familial adrenal adenoma",
          "familial hyperaldosteronism type 2",
          "FH 2",
          "FHII",
          "HALD2",
          "hyperaldosteronism, familial, type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011576"
    },
    {
      "id": 14392,
      "label": "familial hyperaldosteronism type III",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012362",
          "MEDGEN:824604",
          "OMIM:613677",
          "Orphanet:251274",
          "SCTID:703234002",
          "UMLS:C3838758"
        ],
        "synonyms": [
          "FH-III",
          "FH3",
          "familial hyperaldosteronism type 3",
          "FH 3",
          "FH III",
          "HALD3",
          "hyperaldosteronism, familial, type 3",
          "hyperaldosteronism, familial, type III"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013359"
    },
    {
      "id": 15206,
      "label": "aldosterone-producing adenoma with seizures and neurological abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017591",
          "MEDGEN:815939",
          "OMIM:615474",
          "Orphanet:369929",
          "UMLS:C3809609"
        ],
        "synonyms": [
          "APA with seizures and neurological abnormalities",
          "Conn adenoma with seizures and neurological abnormalities",
          "aldosterone-secreting adenoma with seizures and neurological abnormalities",
          "complex neurodevelopmental disorder with or without aldosteronism",
          "primary aldosteronism, seizures, and neurologic abnormalities",
          "Conn adenoma",
          "PASNA",
          "aldosterone-secreting adenoma",
          "aldosteronoma",
          "primary aldosteronism due to Conn adenoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant neurodevelopmental condition related to variants in CACNA1D. Most reported variants are de novo and functional studies have indicated a gain-of-function disease mechanism. This condition is characterized by developmental delay/intellectual disability, autism spectrum disorder, hypotonia and seizures. Other reported features include endocrine abnormalities such as primary aldosteronism and congenital hyperinsulinemic hypoglycemia, self-injurious behavior, facial dysmorphisms, and heart defects."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014200"
    },
    {
      "id": 15857,
      "label": "hyperaldosteronism, familial, type IV",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025028",
          "MEDGEN:934723",
          "OMIM:617027",
          "Orphanet:642671",
          "UMLS:C4310756"
        ],
        "synonyms": [
          "HALD4",
          "familial hyperaldosteronism type IV",
          "hyperaldosteronism, familial, type IV",
          "hyperaldosteronism, familial, type IV; HALD4",
          "FH 4",
          "aldosteronism, primary, and hypertension",
          "hyperaldosteronism, familial, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014875"
    }
  ],
  "roots": [
    {
      "id": 3643,
      "label": "primary aldosteronism"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}