{
    "disease_id": "DOID:0090140",
    "recommended_name": {
        "id": "DOID:0090140",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090140",
        "name": "cortisone reductase deficiency 2",
        "description": "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0090140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090140",
            "name": "CORTRD2",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "cortisone reductase deficiency 2",
            "description": "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."
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "11-beta-hydroxysteroid dehydrogenase type 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "CORTRD2",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "HSD11B1 cortisone reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "cortisone reductase deficiency 2",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "cortisone reductase deficiency caused by mutation in HSD11B1",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "cortisone reductase deficiency type 2",
            "description": ""
        },
        {
            "id": "MIM:614662",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614662",
            "name": "Cortisone reductase deficiency 2",
            "description": "Cortisone reductase deficiency 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090140"
    ],
    "unlinked_id_list": []
}