{
    "disease_id": "DOID:0050546",
    "recommended_name": {
        "id": "DOID:0050546",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050546",
        "name": "congenital adrenal insufficiency",
        "description": "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase."
    },
    "synonyms": [
        {
            "id": "DOID:0050546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050546",
            "name": "P450scc DEFICIENCY",
            "description": ""
        },
        {
            "id": "DOID:0050546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050546",
            "name": "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE",
            "description": ""
        },
        {
            "id": "DOID:0050546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050546",
            "name": "Adrenal insufficiency, congenital, with 46,XY sex reversal",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",
            "description": "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels."
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "XY sex reversal-adrenal failure",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "XY sex reversal-adrenal failure syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "cholesterol side-chain cleavage deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013400",
            "name": "p450scc deficiency",
            "description": ""
        },
        {
            "id": "MIM:613743",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613743",
            "name": "Adrenal insufficiency, congenital, with 46,XY sex reversal",
            "description": "Adrenal insufficiency, congenital, with 46,XY sex reversal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050546"
    ],
    "unlinked_id_list": []
}