{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013842", 
            "name": "cortisone reductase deficiency 2; CORTRD2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013842", 
            "name": "CORTRD2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013842", 
            "name": "11-beta-hydroxysteroid dehydrogenase type 1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013842", 
            "name": "HSD11B1 cortisone reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013842", 
            "name": "cortisone reductase deficiency caused by mutation in HSD11B1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013842", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013842", 
            "name": "cortisone reductase deficiency type 2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090140", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090140", 
            "name": "CORTRD2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090140", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090140", 
        "name": "cortisone reductase deficiency 2"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614662", 
            "id": "614662", 
            "database": "MIM"
        }
    ]
}