{
  "id": 2765,
  "label": "cortisone reductase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000193",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4594,
      "label": "inherited lipid metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3146",
          "GARD:0021314",
          "ICD9:272.8",
          "ICD9:272.9",
          "MEDGEN:57587",
          "MedDRA:10061227",
          "NCIT:C97092",
          "Orphanet:309005",
          "SCTID:267431006",
          "SCTID:402788005",
          "UMLS:C0154251"
        ],
        "synonyms": [
          "disorder of lipid metabolism",
          "dyslipidaemia",
          "dyslipidemia",
          "lipid metabolism disorder",
          "fatty acid metabolism disorder"
        ],
        "definition": "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production."
      },
      "child_count": 29,
      "reference_id": "MONDO:0002525"
    },
    {
      "id": 6772,
      "label": "reproductive system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:15",
          "EFO:0000512",
          "MEDGEN:61253",
          "NCIT:C4875",
          "SCTID:362968007",
          "UMLS:C0178829",
          "Wikipedia:Reproductive_system_disease"
        ],
        "synonyms": [
          "disease of reproductive system",
          "disease or disorder of reproductive system",
          "disorder of reproductive system",
          "genital disorders",
          "reproductive disease",
          "reproductive system disease",
          "reproductive system disease or disorder",
          "reproductive system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "A disease involving the reproductive system."
      },
      "child_count": 30,
      "reference_id": "MONDO:0005039"
    },
    {
      "id": 16604,
      "label": "adrenogenital syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7151,
        23508
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020226",
          "ICD9:255.2",
          "MEDGEN:86215",
          "MESH:D047808",
          "MedDRA:10061630",
          "Orphanet:181412",
          "SCTID:267395000",
          "UMLS:C0302280",
          "icd11.foundation:131153029"
        ],
        "synonyms": [
          "adrenogenital disorder",
          "adrenogenital syndrome",
          "androgenital syndrome",
          "congenital adrenal hyperplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children."
      },
      "child_count": 8,
      "reference_id": "MONDO:0015898"
    }
  ],
  "children": [
    {
      "id": 12603,
      "label": "cortisone reductase deficiency 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090141",
          "GARD:0015375",
          "MEDGEN:764630",
          "NCIT:C131849",
          "OMIM:604931",
          "UMLS:C3551716"
        ],
        "synonyms": [
          "CORTRD1",
          "H6PD cortisone reductase deficiency",
          "apparent cortisone reductase deficiency",
          "cortisone reductase deficiency 1",
          "cortisone reductase deficiency caused by mutation in H6PD",
          "cortisone reductase deficiency type 1",
          "hexose-6-phosphate dehydrogenase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. 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 11-beta HSD type 1 deficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011503"
    },
    {
      "id": 14856,
      "label": "cortisone reductase deficiency 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2765
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013842"
    }
  ],
  "roots": [
    {
      "id": 4594,
      "label": "inherited lipid metabolism disorder"
    },
    {
      "id": 6772,
      "label": "reproductive system disorder"
    },
    {
      "id": 16604,
      "label": "adrenogenital syndrome"
    }
  ]
}