{
    "disease_id": "DOID:0090141",
    "recommended_name": {
        "id": "DOID:0090141",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090141",
        "name": "cortisone reductase deficiency 1",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0090141",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090141",
            "name": "CORTRD1",
            "description": ""
        },
        {
            "id": "MONDO:0011503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011503",
            "name": "cortisone reductase deficiency 1",
            "description": "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."
        },
        {
            "id": "MONDO:0011503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011503",
            "name": "CORTRD1",
            "description": ""
        },
        {
            "id": "MONDO:0011503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011503",
            "name": "H6PD cortisone reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011503",
            "name": "apparent cortisone reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011503",
            "name": "cortisone reductase deficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0011503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011503",
            "name": "cortisone reductase deficiency caused by mutation in H6PD",
            "description": ""
        },
        {
            "id": "MONDO:0011503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011503",
            "name": "cortisone reductase deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011503",
            "name": "hexose-6-phosphate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MIM:604931",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604931",
            "name": "Cortisone reductase deficiency 1",
            "description": "Cortisone reductase deficiency 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090141"
    ],
    "unlinked_id_list": []
}