{
    "disease_id": "DOID:0080925",
    "recommended_name": {
        "id": "DOID:0080925",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080925",
        "name": "cytochrome P450 oxidoreductase deficiency",
        "description": "A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2."
    },
    "synonyms": [
        {
            "id": "MONDO:0013310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013310",
            "name": "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency",
            "description": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations."
        },
        {
            "id": "MONDO:0013310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013310",
            "name": "POR deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013310",
            "name": "PORD",
            "description": ""
        },
        {
            "id": "MONDO:0013310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013310",
            "name": "congenital adrenal hyperplasia due to cytochrome POR deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013310",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013310",
            "name": "disordered steroidogenesis due to cytochrome P450 oxidoreductase",
            "description": ""
        },
        {
            "id": "MIM:613571",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613571",
            "name": "Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency",
            "description": "Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080925"
    ],
    "unlinked_id_list": []
}