{
  "id": 15206,
  "label": "aldosterone-producing adenoma with seizures and neurological abnormalities",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014200",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17022,
      "label": "familial hyperaldosteronism"
    }
  ]
}