{
    "disease_id": "DOID:0111069",
    "recommended_name": {
        "id": "DOID:0111069",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111069",
        "name": "congenital bile acid synthesis defect 2",
        "description": "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33."
    },
    "synonyms": [
        {
            "id": "DOID:0111069",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111069",
            "name": "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111069",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111069",
            "name": "CBAS2",
            "description": ""
        },
        {
            "id": "MONDO:0009339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "name": "congenital bile acid synthesis defect 2",
            "description": "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins."
        },
        {
            "id": "MONDO:0009339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "name": "AKR1D1 congenital bile acid synthesis defect",
            "description": ""
        },
        {
            "id": "MONDO:0009339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "name": "BASD2",
            "description": ""
        },
        {
            "id": "MONDO:0009339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "name": "CBAS2",
            "description": ""
        },
        {
            "id": "MONDO:0009339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "name": "bile acid synthesis defect, congenital, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "name": "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "name": "congenital bile acid synthesis defect caused by mutation in AKR1D1",
            "description": ""
        },
        {
            "id": "MONDO:0009339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "name": "congenital bile acid synthesis defect type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "name": "bile acid synthesis defect, congenital, 2",
            "description": ""
        },
        {
            "id": "MONDO:0009339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "name": "congenital bile acid synthesis defect, type 2",
            "description": ""
        },
        {
            "id": "MIM:235555",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/235555",
            "name": "Congenital bile acid synthesis defect 2",
            "description": "Congenital bile acid synthesis defect 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111069"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111069",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111069",
            "categories": []
        },
        {
            "id": "MONDO:0009339",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009339",
            "categories": []
        },
        {
            "id": "MIM:235555",
            "database": "MIM",
            "url": "https://www.omim.org/entry/235555",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VCX1-1",
            "uniprot_ac": "Q8VCX1",
            "uniprot_id": "AK1D1_MOUSE",
            "refseq_ac": "NP_663339",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldo-keto reductase family 1 member D1",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.3",
                    "type": "synonym"
                },
                {
                    "name": "3-oxo-5-beta-steroid 4-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(4)-3-ketosteroid 5-beta-reductase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(4)-3-oxosteroid 5-beta-reductase",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1 member D1",
                    "type": "synonym"
                },
                {
                    "name": "delta(4)-3-ketosteroid 5-beta-reductase",
                    "type": "synonym"
                },
                {
                    "name": "delta(4)-3-oxosteroid 5-beta-reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akr1d1",
                    "type": "recommended"
                },
                {
                    "name": "Akr1d1",
                    "type": "synonym"
                }
            ],
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                    "id": "0111069",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51857-1",
            "uniprot_ac": "P51857",
            "uniprot_id": "AK1D1_HUMAN",
            "refseq_ac": "NP_001177835",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldo-keto reductase family 1 member D1",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.3",
                    "type": "synonym"
                },
                {
                    "name": "3-oxo-5-beta-steroid 4-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(4)-3-ketosteroid 5-beta-reductase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(4)-3-oxosteroid 5-beta-reductase",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1 member D1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "delta(4)-3-ketosteroid 5-beta-reductase",
                    "type": "synonym"
                },
                {
                    "name": "delta(4)-3-oxosteroid 5-beta-reductase",
                    "type": "synonym"
                },
                {
                    "name": "steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AKR1D1",
                    "type": "recommended"
                },
                {
                    "name": "3o5bred",
                    "type": "synonym"
                },
                {
                    "name": "AKR1D1",
                    "type": "synonym"
                },
                {
                    "name": "CBAS2",
                    "type": "synonym"
                },
                {
                    "name": "SRD5B1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51857-1",
            "evidence": [
                {
                    "id": "235555",
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                    "url": "https://www.omim.org/entry/235555"
                },
                {
                    "id": "0111069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47137-1",
            "uniprot_ac": "P47137",
            "uniprot_id": "YJ66_YEAST",
            "refseq_ac": "NP_012630",
            "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": "Uncharacterized oxidoreductase YJR096W",
                    "type": "recommended"
                },
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase superfamily protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "J1926",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111069",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38715-1",
            "uniprot_ac": "P38715",
            "uniprot_id": "GRE3_YEAST",
            "refseq_ac": "NP_011972",
            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADPH-dependent aldose reductase GRE3",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.21",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.430",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.431",
                    "type": "synonym"
                },
                {
                    "name": "AR",
                    "type": "synonym"
                },
                {
                    "name": "Genes de respuesta a estres protein 3",
                    "type": "synonym"
                },
                {
                    "name": "NADPH-dependent aldo-keto reductase GRE3",
                    "type": "synonym"
                },
                {
                    "name": "Xylose reductase",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional aldehyde reductase/xylose reductase/glucose 1-dehydrogenase (NADP(+))",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRE3",
                    "type": "recommended"
                },
                {
                    "name": "GRE3",
                    "type": "synonym"
                },
                {
                    "name": "XYL1",
                    "type": "synonym"
                },
                {
                    "name": "XYLA",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111069",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14065-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerol 2-dehydrogenase (NADP(+))",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.156",
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                },
                {
                    "name": "Galactose-inducible crystallin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glycerol 2-dehydrogenase (NADP(+)) GCY1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCY1",
                    "type": "recommended"
                },
                {
                    "name": "GCY1",
                    "type": "synonym"
                },
                {
                    "name": "GCY",
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                },
                {
                    "name": "O31567",
                    "type": "synonym"
                },
                {
                    "name": "YOR3269W",
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            ],
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                {
                    "id": "0111069",
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            ]
        },
        {
            "uniprot_canonical_ac": "Q12458-1",
            "uniprot_ac": "Q12458",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldehyde reductase YPR1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "2-methylbutyraldehyde reductase",
                    "type": "synonym"
                },
                {
                    "name": "trifunctional aldehyde reductase/carbonyl reductase (NADPH)/glucose 1-dehydrogenase (NADP(+)) YPR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YPR1",
                    "type": "recommended"
                },
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                    "name": "D9481.8",
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                },
                {
                    "name": "YPR1",
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                }
            ],
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                    "id": "0111069",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31210-1",
            "uniprot_ac": "P31210",
            "uniprot_id": "AK1D1_RAT",
            "refseq_ac": "NP_620239",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldo-keto reductase family 1 member D1",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.3",
                    "type": "synonym"
                },
                {
                    "name": "3-oxo-5-beta-steroid 4-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(4)-3-ketosteroid 5-beta-reductase",
                    "type": "synonym"
                },
                {
                    "name": "Delta(4)-3-oxosteroid 5-beta-reductase",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1 member D1",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)",
                    "type": "synonym"
                },
                {
                    "name": "delta(4)-3-ketosteroid 5-beta-reductase",
                    "type": "synonym"
                },
                {
                    "name": "delta(4)-3-oxosteroid 5-beta-reductase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Akr1d1",
                    "type": "recommended"
                },
                {
                    "name": "Akr1d1",
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                }
            ],
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                {
                    "id": "0111069",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y112-1",
            "uniprot_ac": "Q9Y112",
            "uniprot_id": "Q9Y112_DROME",
            "refseq_ac": "NP_647840",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADP-dependent oxidoreductase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG10863-PA",
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                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ar3",
                    "type": "recommended"
                },
                {
                    "name": "AKR2E3",
                    "type": "synonym"
                },
                {
                    "name": "Akr2E3",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH10614",
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                },
                {
                    "name": "CG10863",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10863",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10863",
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                },
                {
                    "name": "dm1/AKR2E3",
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                    "id": "0111069",
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        {
            "uniprot_canonical_ac": "Q9VTY2-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADP-dependent oxidoreductase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG10638-PD",
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                },
                {
                    "name": "aldo-keto reductase",
                    "type": "synonym"
                },
                {
                    "name": "aldose reductase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ar2",
                    "type": "recommended"
                },
                {
                    "name": "AKR",
                    "type": "synonym"
                },
                {
                    "name": "AR",
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                },
                {
                    "name": "CG10638",
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                },
                {
                    "name": "CG32101",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10638",
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                },
                {
                    "name": "Dmel_CG10638",
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                },
                {
                    "name": "anon-WO0172774.89",
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            ],
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                    "id": "0111069",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111069"
}