{
    "disease_id": "DOID:0090140",
    "recommended_name": {
        "id": "DOID:0090140",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090140",
        "name": "cortisone reductase deficiency 2",
        "description": "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0090140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090140",
            "name": "CORTRD2",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "cortisone reductase deficiency 2",
            "description": "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. 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 H6PD deficiency."
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "11-beta-hydroxysteroid dehydrogenase type 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "CORTRD2",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "HSD11B1 cortisone reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "cortisone reductase deficiency 2",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "cortisone reductase deficiency caused by mutation in HSD11B1",
            "description": ""
        },
        {
            "id": "MONDO:0013842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "name": "cortisone reductase deficiency type 2",
            "description": ""
        },
        {
            "id": "MIM:614662",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614662",
            "name": "Cortisone reductase deficiency 2",
            "description": "Cortisone reductase deficiency 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090140"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090140",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090140",
            "categories": []
        },
        {
            "id": "MONDO:0013842",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013842",
            "categories": []
        },
        {
            "id": "MIM:614662",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614662",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PUF3-1",
            "uniprot_ac": "Q6PUF3",
            "uniprot_id": "DHI1L_DANRE",
            "refseq_ac": "NP_956617",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxysteroid 11-beta-dehydrogenase 1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "11-DH3",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-HSD3",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase type 3",
                    "type": "synonym"
                },
                {
                    "name": "SDR family oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid (11-beta) dehydrogenase 3a",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid (11-beta) dehydrogenase 3",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid 11-beta-dehydrogenase 1-like protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid 11-beta-dehydrogenase 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "short-chain dehydrogenase/reductase 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hsd11b1l",
                    "type": "recommended"
                },
                {
                    "name": "11-DH3",
                    "type": "synonym"
                },
                {
                    "name": "hsd11b1la",
                    "type": "synonym"
                },
                {
                    "name": "hsd11b1l",
                    "type": "synonym"
                },
                {
                    "name": "hsd11b3a",
                    "type": "synonym"
                },
                {
                    "name": "hsd11b3",
                    "type": "synonym"
                },
                {
                    "name": "hsd3",
                    "type": "synonym"
                },
                {
                    "name": "sdr10b",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-78l4.15",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56373",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PUF3-1",
            "evidence": [
                {
                    "id": "0090140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50172-1",
            "uniprot_ac": "P50172",
            "uniprot_id": "DHI1_MOUSE",
            "refseq_ac": "NP_001038216",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.146",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.201",
                    "type": "synonym"
                },
                {
                    "name": "11-DH",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-HSD1A/MCR",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-HSD1",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase/microsomal carbonyl reductase",
                    "type": "synonym"
                },
                {
                    "name": "11beta-HSD-1",
                    "type": "synonym"
                },
                {
                    "name": "11beta-HSD1A",
                    "type": "synonym"
                },
                {
                    "name": "11beta-hydroxysteroid dehydrogenase type 1",
                    "type": "synonym"
                },
                {
                    "name": "7-oxosteroid reductase",
                    "type": "synonym"
                },
                {
                    "name": "Corticosteroid 11-beta-dehydrogenase isozyme 1",
                    "type": "synonym"
                },
                {
                    "name": "Corticosteroid 11-beta-dehydrogenase, isozyme 1 (11-DH) (11-beta-hydroxysteroid dehydrogenase 1) (11-beta-HSD1) (11beta-HSD1A)",
                    "type": "synonym"
                },
                {
                    "name": "corticosteroid 11-beta-dehydrogenase isozyme 1",
                    "type": "synonym"
                },
                {
                    "name": "liver-type 11-beta-HSD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsd11b1",
                    "type": "recommended"
                },
                {
                    "name": "Hsd11b1",
                    "type": "synonym"
                },
                {
                    "name": "Hsd11",
                    "type": "synonym"
                }
            ],
            "record_id": "P50172-1",
            "evidence": [
                {
                    "id": "0090140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28845-1",
            "uniprot_ac": "P28845",
            "uniprot_id": "DHI1_HUMAN",
            "refseq_ac": "NP_001193670",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.146",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.201",
                    "type": "synonym"
                },
                {
                    "name": "11-DH",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-HSD1",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "7-oxosteroid reductase",
                    "type": "synonym"
                },
                {
                    "name": "Corticosteroid 11-beta-dehydrogenase isozyme 1",
                    "type": "synonym"
                },
                {
                    "name": "Short chain dehydrogenase/reductase family 26C member 1",
                    "type": "synonym"
                },
                {
                    "name": "corticosteroid 11-beta-dehydrogenase isozyme 1",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 26C member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSD11B1",
                    "type": "recommended"
                },
                {
                    "name": "11-DH",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-HSD1",
                    "type": "synonym"
                },
                {
                    "name": "CORTRD2",
                    "type": "synonym"
                },
                {
                    "name": "HDL",
                    "type": "synonym"
                },
                {
                    "name": "HSD11B1",
                    "type": "synonym"
                },
                {
                    "name": "HSD11B",
                    "type": "synonym"
                },
                {
                    "name": "HSD11L",
                    "type": "synonym"
                },
                {
                    "name": "HSD11",
                    "type": "synonym"
                },
                {
                    "name": "SDR26C1",
                    "type": "synonym"
                }
            ],
            "record_id": "P28845-1",
            "evidence": [
                {
                    "id": "614662",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614662"
                },
                {
                    "id": "0090140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40579-1",
            "uniprot_ac": "P40579",
            "uniprot_id": "NRE1_YEAST",
            "refseq_ac": "NP_012301",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Benzil reductase ((S)-benzoin forming) NRE1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.320",
                    "type": "synonym"
                },
                {
                    "name": "Novel reductase 1",
                    "type": "synonym"
                },
                {
                    "name": "sepiapterin reductase family protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NRE1",
                    "type": "recommended"
                },
                {
                    "name": "NRE1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40579-1",
            "evidence": [
                {
                    "id": "0090140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40580-1",
            "uniprot_ac": "P40580",
            "uniprot_id": "BZRD_YEAST",
            "refseq_ac": "NP_012302",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Benzil reductase ((S)-benzoin forming) IRC24",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.320",
                    "type": "synonym"
                },
                {
                    "name": "Increased recombination centers protein 24",
                    "type": "synonym"
                },
                {
                    "name": "sepiapterin reductase family protein IRC24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRC24",
                    "type": "recommended"
                },
                {
                    "name": "IRC24",
                    "type": "synonym"
                }
            ],
            "record_id": "P40580-1",
            "evidence": [
                {
                    "id": "0090140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16232-1",
            "uniprot_ac": "P16232",
            "uniprot_id": "DHI1_RAT",
            "refseq_ac": "NP_058776",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.146",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.201",
                    "type": "synonym"
                },
                {
                    "name": "11-DH",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-HSD1",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "11-beta-hydroxysteroid dehydrogenase, type 1",
                    "type": "synonym"
                },
                {
                    "name": "11beta-HSD1",
                    "type": "synonym"
                },
                {
                    "name": "7-oxosteroid reductase",
                    "type": "synonym"
                },
                {
                    "name": "Corticosteroid 11-beta-dehydrogenase isozyme 1",
                    "type": "synonym"
                },
                {
                    "name": "corticosteroid 11-beta-dehydrogenase isozyme 1",
                    "type": "synonym"
                },
                {
                    "name": "cortocosteroid 11-beta dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid dehydrogenase, 11 beta type 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsd11b1",
                    "type": "recommended"
                },
                {
                    "name": "Hsd11b1",
                    "type": "synonym"
                },
                {
                    "name": "Hsd11",
                    "type": "synonym"
                },
                {
                    "name": "LRRGT00065",
                    "type": "synonym"
                }
            ],
            "record_id": "P16232-1",
            "evidence": [
                {
                    "id": "0090140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090140"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090140"
}