{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0090141",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090141",
            "categories": []
        },
        {
            "id": "MONDO:0011503",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011503",
            "categories": []
        },
        {
            "id": "MIM:604931",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604931",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FGT2-1",
            "uniprot_ac": "E7FGT2",
            "uniprot_id": "E7FGT2_DANRE",
            "refseq_ac": "XP_021332932",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDH/6PGL endoplasmic bifunctional protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "h6pd",
                    "type": "recommended"
                },
                {
                    "name": "h6pd",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FGT2-1",
            "evidence": [
                {
                    "id": "0090141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CFX1-1",
            "uniprot_ac": "Q8CFX1",
            "uniprot_id": "G6PE_MOUSE",
            "refseq_ac": "NP_001277933",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDH/6PGL endoplasmic bifunctional protein",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.363",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.47",
                    "type": "synonym"
                },
                {
                    "name": "GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GDH/6PGL endoplasmic bifunctional protein",
                    "type": "synonym"
                },
                {
                    "name": "Glucose 1-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-6-phosphate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "glucose 1-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate dehydrogenase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "H6pd",
                    "type": "recommended"
                },
                {
                    "name": "G6pd1",
                    "type": "synonym"
                },
                {
                    "name": "Gpd-1",
                    "type": "synonym"
                },
                {
                    "name": "Gpd1",
                    "type": "synonym"
                },
                {
                    "name": "H6pd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFX1-1",
            "evidence": [
                {
                    "id": "0090141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95479-1",
            "uniprot_ac": "O95479",
            "uniprot_id": "G6PE_HUMAN",
            "refseq_ac": "NP_004276",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDH/6PGL endoplasmic bifunctional protein",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.363",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.47",
                    "type": "synonym"
                },
                {
                    "name": "6-phosphogluconolactonase",
                    "type": "synonym"
                },
                {
                    "name": "G6PD, H form",
                    "type": "synonym"
                },
                {
                    "name": "GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GDH/6PGL endoplasmic bifunctional protein",
                    "type": "synonym"
                },
                {
                    "name": "GDH",
                    "type": "synonym"
                },
                {
                    "name": "Glucose 1-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-6-phosphate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "glucose 1- dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "glucose dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "glucose dehyrogenase",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate dehydrogenase, salivary",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "H6PD",
                    "type": "recommended"
                },
                {
                    "name": "CORTRD1",
                    "type": "synonym"
                },
                {
                    "name": "G6PDH",
                    "type": "synonym"
                },
                {
                    "name": "GDH",
                    "type": "synonym"
                },
                {
                    "name": "H6PDH",
                    "type": "synonym"
                },
                {
                    "name": "H6PD",
                    "type": "synonym"
                }
            ],
            "record_id": "O95479-1",
            "evidence": [
                {
                    "id": "604931",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604931"
                },
                {
                    "id": "0090141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7D7-1",
            "uniprot_ac": "D4A7D7",
            "uniprot_id": "D4A7D7_RAT",
            "refseq_ac": "NP_001100168",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDH/6PGL endoplasmic bifunctional protein",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.363",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.47",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.31",
                    "type": "synonym"
                },
                {
                    "name": "GDH/6PGL endoplasmic bifunctional protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "GDH/6PGL endoplasmic bifunctional protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "H6pd",
                    "type": "recommended"
                },
                {
                    "name": "H6pdh",
                    "type": "synonym"
                },
                {
                    "name": "H6pd",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7D7-1",
            "evidence": [
                {
                    "id": "0090141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090141"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090141"
}