{
  "id": 14856,
  "label": "cortisone reductase deficiency 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013842",
  "properties": {
    "xrefs": [
      "DOID:0090140",
      "GARD:0015830",
      "MEDGEN:766296",
      "NCIT:C131084",
      "OMIM:614662",
      "UMLS:C3553382"
    ],
    "synonyms": [
      "11-beta-hydroxysteroid dehydrogenase type 1 deficiency",
      "CORTRD2",
      "HSD11B1 cortisone reductase deficiency",
      "cortisone reductase deficiency 2",
      "cortisone reductase deficiency caused by mutation in HSD11B1",
      "cortisone reductase deficiency type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2765,
      "label": "cortisone reductase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        6772,
        16604
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090139",
          "GARD:0009882",
          "ICD9:277.6",
          "MEDGEN:266223",
          "MESH:C536447",
          "OMIMPS:604931",
          "Orphanet:168588",
          "SCTID:124138004",
          "UMLS:C1291245"
        ],
        "synonyms": [
          "11-beta-hydroxysteroid dehydrogenase deficiency type 1",
          "deficiency of (R)-20-hydroxysteroid dehydrogenase",
          "deficiency of cortisone reductase",
          "hyperandrogenism due to cortisone reductase deficiency",
          "HSD 11B1 deficiency",
          "11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility."
      },
      "child_count": 6,
      "reference_id": "MONDO:0000193"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2765,
      "label": "cortisone reductase deficiency"
    }
  ]
}