{
  "id": 22821,
  "label": "early-onset familial hypoaldosteronism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0035320",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 18558,
      "label": "familial hypoaldosteronism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16605
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 5,
      "reference_id": "MONDO:0018541"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18558,
      "label": "familial hypoaldosteronism"
    }
  ]
}