{
    "disease_id": "DOID:0090141", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011503", 
            "name": "H6PD cortisone reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011503", 
            "name": "cortisone reductase deficiency 1; CORTRD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011503", 
            "name": "CORTRD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011503", 
            "name": "hexose-6-phosphate dehydrogenase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011503", 
            "name": "cortisone reductase deficiency caused by mutation in H6PD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011503", 
            "name": "cortisone reductase deficiency type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011503", 
            "name": "apparent cortisone reductase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090141", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090141", 
            "name": "CORTRD1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090141", 
        "description": "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090141", 
        "name": "cortisone reductase deficiency 1"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/604931", 
            "id": "604931", 
            "database": "MIM"
        }
    ]
}