{
  "id": 10277,
  "label": "apparent mineralocorticoid excess",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009025",
  "properties": {
    "xrefs": [
      "DOID:0090121",
      "DOID:4367",
      "GARD:0000433",
      "ICD9:255.3",
      "MEDGEN:90983",
      "MESH:C537422",
      "MESH:D043204",
      "NANDO:2100130",
      "NANDO:2200362",
      "NCIT:C123231",
      "NCIT:C131083",
      "OMIM:218030",
      "Orphanet:320",
      "SCTID:237770005",
      "SCTID:703256004",
      "UMLS:C0342488",
      "icd11.foundation:1737310323"
    ],
    "synonyms": [
      "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency",
      "11-beta-hydroxysteroid dehydrogenase deficiency type 2",
      "APE",
      "Ulick syndrome",
      "apparent mineralocorticoid excess",
      "apparent mineralocorticoid excess syndrome",
      "cortisol 11-beta-ketoreductase deficiency",
      "syndrome of apparent mineralocorticoid Excess",
      "AME",
      "AME 1",
      "Ame1",
      "apparent mineralocorticoid EXCESS",
      "cortisol 11-Beta-ketoreductase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7151,
      "label": "adrenal gland disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9553",
          "EFO:0005539",
          "ICD9:255",
          "ICD9:255.8",
          "ICD9:255.9",
          "MEDGEN:892577",
          "MESH:D000307",
          "NCIT:C26690",
          "SCTID:30171000",
          "UMLS:C4021794"
        ],
        "synonyms": [
          "adrenal gland disease",
          "adrenal gland disease or disorder",
          "adrenal gland diseases",
          "adrenal gland disorder",
          "adrenal gland disorders",
          "disease of adrenal gland",
          "disease or disorder of adrenal gland",
          "disorder of adrenal gland"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the adrenal gland."
      },
      "child_count": 18,
      "reference_id": "MONDO:0005495"
    },
    {
      "id": 7177,
      "label": "steroid inherited metabolic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1701",
          "EFO:0005590",
          "GARD:0024202",
          "MEDGEN:219772",
          "MESH:D043202",
          "UMLS:C1257809"
        ],
        "definition": "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero."
      },
      "child_count": 3,
      "reference_id": "MONDO:0005523"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7151,
      "label": "adrenal gland disorder"
    },
    {
      "id": 7177,
      "label": "steroid inherited metabolic disorder"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    }
  ]
}