{
  "id": 18558,
  "label": "familial hypoaldosteronism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018541",
  "properties": {
    "xrefs": [
      "GARD:0016532",
      "MEDGEN:899592",
      "Orphanet:427",
      "SCTID:715343000",
      "UMLS:C4275180",
      "icd11.foundation:712299654"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16605,
      "label": "hypoaldosteronism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020228",
          "MEDGEN:208996",
          "MESH:D006994",
          "NANDO:2100132",
          "Orphanet:181419",
          "SCTID:60086000",
          "UMLS:C0857899"
        ],
        "synonyms": [
          "rare hypoaldosteronism",
          "hypoaldosteronism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0015900"
    }
  ],
  "children": [
    {
      "id": 10024,
      "label": "corticosterone methyloxidase type 1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4594,
        18558,
        23508
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080626",
          "GARD:0005660",
          "MEDGEN:82784",
          "OMIM:203400",
          "SCTID:47757001",
          "UMLS:C0268293"
        ],
        "synonyms": [
          "corticosterone 18-monooxygenase deficiency",
          "corticosterone methyloxidase type 1 deficiency",
          "hypoaldosteronism, congenital, due to cmo i deficiency",
          "18 Hydroxylase deficiency",
          "18 alpha hydroxylase deficiency",
          "18-Hydroxylase deficiency",
          "18-hydroxycorticosterone dehydrogenase deficiency",
          "18-hydroxylase deficiency",
          "CAH - 18-hydroxylase deficiency",
          "CMO 1 deficiency",
          "CMO I deficiency",
          "CMO II deficiency",
          "aldosterone deficiency 1",
          "aldosterone deficiency due to 18-hydroxylase defect",
          "aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency",
          "aldosterone deficiency due to defect in 18 hydroxylase",
          "aldosterone deficiency due to defect in steroid 18-Hydroxylase",
          "corticosterone methyl oxidase type I deficiency",
          "corticosterone methyl oxidase type II deficiency",
          "corticosterone methyloxidase type I deficiency",
          "hyperreninemic hypoaldosteronism, familial, 1",
          "steroid 18-hydroxylase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008751"
    },
    {
      "id": 12840,
      "label": "familial hyperreninemic hypoaldosteronism type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18558
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024822",
          "MEDGEN:335571",
          "MESH:C564638",
          "OMIM:606984",
          "Orphanet:99764",
          "UMLS:C1846990"
        ],
        "synonyms": [
          "FHHA2",
          "aldosterone synthase deficiency unrelated to CYP11B2",
          "aldosterone synthase deficiency unrelated to the aldosterone synthase gene",
          "hyperreninemic hypoaldosteronism, familial, type 2",
          "Fhha2",
          "hyperreninemic hypoaldosteronism, familial, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011754"
    },
    {
      "id": 13572,
      "label": "corticosterone methyloxidase type 2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        18558
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024871",
          "MEDGEN:483046",
          "OMIM:610600",
          "UMLS:C3463917"
        ],
        "synonyms": [
          "hypoaldosteronism, congenital, due to CMO II deficiency",
          "18-oxidase deficiency",
          "Cmo 2 deficiency",
          "aldosterone deficiency 2",
          "aldosterone deficiency due to deficiency of steroid 18-oxidase",
          "corticosterone methyloxidase type II deficiency",
          "hyperreninemic hypoaldosteronism, familial, 1",
          "steroid 18-oxidase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012524"
    },
    {
      "id": 22821,
      "label": "early-onset familial hypoaldosteronism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        18558
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022243",
          "ICD10CM:E27.4",
          "MEDGEN:1842560",
          "Orphanet:556030",
          "UMLS:C5680171"
        ],
        "synonyms": [
          "Early-onset familial hyperreninemic hypoaldosteronism",
          "Severe aldosterone synthase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low."
      },
      "child_count": 0,
      "reference_id": "MONDO:0035320"
    },
    {
      "id": 22822,
      "label": "late-onset familial hypoaldosteronism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18558
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022244",
          "ICD10CM:E27.4",
          "MEDGEN:1843290",
          "Orphanet:556037",
          "UMLS:C5680172"
        ],
        "synonyms": [
          "Late-onset familial hyperreninemic hypoaldosteronism",
          "Mild aldosterone synthase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening."
      },
      "child_count": 0,
      "reference_id": "MONDO:0035321"
    }
  ],
  "roots": [
    {
      "id": 16605,
      "label": "hypoaldosteronism disease"
    }
  ]
}