{
    "disease_id": "DOID:0111773",
    "recommended_name": {
        "id": "DOID:0111773",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111773",
        "name": "46,XY sex reversal 8",
        "description": "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111773",
            "name": "SRXY8",
            "description": ""
        },
        {
            "id": "DOID:0111773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111773",
            "name": "TDD",
            "description": ""
        },
        {
            "id": "DOID:0111773",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111773",
            "name": "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase",
            "description": ""
        },
        {
            "id": "MONDO:0013664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013664",
            "name": "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013664",
            "name": "46,XY sex reversal type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013664",
            "name": "46XY sex reversal 8",
            "description": ""
        },
        {
            "id": "MONDO:0013664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013664",
            "name": "46XY sex reversal 8, modifier of",
            "description": ""
        },
        {
            "id": "MONDO:0013664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013664",
            "name": "46,XY sex reversal 8",
            "description": ""
        },
        {
            "id": "MONDO:0013664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013664",
            "name": "SRXY8",
            "description": ""
        },
        {
            "id": "MIM:614279",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614279",
            "name": "46,XY sex reversal 8",
            "description": "46,XY sex reversal 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111773"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111773",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111773",
            "categories": []
        },
        {
            "id": "MONDO:0013664",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013664",
            "categories": []
        },
        {
            "id": "MIM:614279",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614279",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PA35-1",
            "uniprot_ac": "A0A8M1PA35",
            "uniprot_id": "A0A8M1PA35_DANRE",
            "refseq_ac": "NP_956031",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "alcohol dehydrogenase (NADP(+))",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "S-nitroso-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC326033",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wu:fd58h08",
                    "type": "recommended"
                },
                {
                    "name": "zgc:56622",
                    "type": "recommended"
                },
                {
                    "name": "fd58h08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd58h08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56622",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PA35-1",
            "evidence": [
                {
                    "id": "0111773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3X9Y6-1",
            "uniprot_ac": "G3X9Y6",
            "uniprot_id": "G3X9Y6_MOUSE",
            "refseq_ac": "NP_001013807",
            "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 C19",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1, member C19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akr1c19",
                    "type": "recommended"
                },
                {
                    "name": "1810010N06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Akr1c19",
                    "type": "synonym"
                }
            ],
            "record_id": "G3X9Y6-1",
            "evidence": [
                {
                    "id": "0111773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K023-1",
            "uniprot_ac": "Q8K023",
            "uniprot_id": "AKC1H_MOUSE",
            "refseq_ac": "NP_001333464",
            "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 C18",
                    "type": "recommended"
                },
                {
                    "name": "1.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.149",
                    "type": "synonym"
                },
                {
                    "name": "20-alpha-HSD",
                    "type": "synonym"
                },
                {
                    "name": "20-alpha-hydroxysteroid dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "20alpha-HSD",
                    "type": "synonym"
                },
                {
                    "name": "20alpha-hydroxysteroid dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1 member C18 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akr1c18",
                    "type": "recommended"
                },
                {
                    "name": "Akr1c18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K023-1",
            "evidence": [
                {
                    "id": "0111773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VC28-1",
            "uniprot_ac": "Q8VC28",
            "uniprot_id": "AK1CD_MOUSE",
            "refseq_ac": "NP_038806",
            "glycoprotein": "yes",
            "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 C13",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase AKR1C13",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1 member C13 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akr1c13",
                    "type": "recommended"
                },
                {
                    "name": "Akr1c13",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4014",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VC28-1",
            "evidence": [
                {
                    "id": "0111773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WR5-1",
            "uniprot_ac": "Q91WR5",
            "uniprot_id": "AK1CL_MOUSE",
            "refseq_ac": "NP_084177",
            "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 C21",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.209",
                    "type": "synonym"
                },
                {
                    "name": "17-alpha-HSD",
                    "type": "synonym"
                },
                {
                    "name": "17-alpha-hydroxysteroid dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "3(17)alpha-hydroxysteroid dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "3(or 17)-alpha-hydroxysteroid dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha-hydroxysteroid dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "DD1",
                    "type": "synonym"
                },
                {
                    "name": "DD3",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrodiol dehydrogenase type 1",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrodiol dehydrogenase type 3",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1 member C21",
                    "type": "synonym"
                },
                {
                    "name": "dihydrodiol dehydrogenase type 1",
                    "type": "synonym"
                },
                {
                    "name": "dihydrodiol dehydrogenase type 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akr1c21",
                    "type": "recommended"
                },
                {
                    "name": "9430025F20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Akr1c21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WR5-1",
            "evidence": [
                {
                    "id": "0111773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70694-1",
            "uniprot_ac": "P70694",
            "uniprot_id": "DHB5_MOUSE",
            "refseq_ac": "NP_085114",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Estradiol 17 beta-dehydrogenase 5",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "17-beta-HSD 5",
                    "type": "synonym"
                },
                {
                    "name": "17HSD type 5",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1, member C1 (aldehyde reductase)",
                    "type": "synonym"
                },
                {
                    "name": "estradiol 17 beta-dehydrogenase 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "estradiol 17 beta-dehydrogenase 5",
                    "type": "synonym"
                },
                {
                    "name": "estradiol 17-beta-dehydrogenase (A-specific)",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid 17-beta dehydrogenase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Akr1c6",
                    "type": "recommended"
                },
                {
                    "name": "3alpha-HSD",
                    "type": "synonym"
                },
                {
                    "name": "Akr1c1",
                    "type": "synonym"
                },
                {
                    "name": "Akr1c6",
                    "type": "synonym"
                },
                {
                    "name": "Hsd17b5",
                    "type": "synonym"
                }
            ],
            "record_id": "P70694-1",
            "evidence": [
                {
                    "id": "0111773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17516-1",
            "uniprot_ac": "P17516",
            "uniprot_id": "AK1C4_HUMAN",
            "refseq_ac": "",
            "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 C4",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.209",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.210",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.225",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.357",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.51",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.53",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.62",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha-HSD1",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha-hydroxysteroid 3-dehydrogenase type I",
                    "type": "synonym"
                },
                {
                    "name": "CDR",
                    "type": "synonym"
                },
                {
                    "name": "Chlordecone reductase",
                    "type": "synonym"
                },
                {
                    "name": "DD-4",
                    "type": "synonym"
                },
                {
                    "name": "DD4",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrodiol dehydrogenase 4",
                    "type": "synonym"
                },
                {
                    "name": "HAKRA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AKR1C4",
                    "type": "recommended"
                },
                {
                    "name": "CHDR",
                    "type": "synonym"
                }
            ],
            "record_id": "P17516-1",
            "evidence": [
                {
                    "id": "614279",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614279"
                },
                {
                    "id": "0111773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52895-1",
            "uniprot_ac": "P52895",
            "uniprot_id": "AK1C2_HUMAN",
            "refseq_ac": "NP_001128713",
            "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 C2",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.112",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.209",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.357",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.51",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.62",
                    "type": "synonym"
                },
                {
                    "name": "1.3.1.20",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha hydroxysteroid dehydrogenase, type III",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha-HSD3",
                    "type": "synonym"
                },
                {
                    "name": "Chlordecone reductase homolog HAKRD",
                    "type": "synonym"
                },
                {
                    "name": "DD-2",
                    "type": "synonym"
                },
                {
                    "name": "DD/BABP",
                    "type": "synonym"
                },
                {
                    "name": "DD2",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrodiol dehydrogenase 2",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrodiol dehydrogenase/bile acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Type III 3-alpha-hydroxysteroid dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase family 1 member C2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "bile acid binding protein",
                    "type": "synonym"
                },
                {
                    "name": "chlordecone reductase homolog HAKRD",
                    "type": "synonym"
                },
                {
                    "name": "dihydrodiol dehydrogenase 2",
                    "type": "synonym"
                },
                {
                    "name": "pseudo-chlordecone reductase",
                    "type": "synonym"
                },
                {
                    "name": "testicular 17,20-desmolase deficiency",
                    "type": "synonym"
                },
                {
                    "name": "trans-1,2-dihydrobenzene-1,2-diol dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "type II dihydrodiol dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AKR1C2",
                    "type": "recommended"
                },
                {
                    "name": "AKR1C-pseudo",
                    "type": "synonym"
                },
                {
                    "name": "AKR1C2",
                    "type": "synonym"
                },
                {
                    "name": "BABP",
                    "type": "synonym"
                },
                {
                    "name": "DD-2",
                    "type": "synonym"
                },
                {
                    "name": "DD/BABP",
                    "type": "synonym"
                },
                {
                    "name": "DD2",
                    "type": "synonym"
                },
                {
                    "name": "DDH2",
                    "type": "synonym"
                },
                {
                    "name": "DD",
                    "type": "synonym"
                },
                {
                    "name": "HAKRD",
                    "type": "synonym"
                },
                {
                    "name": "HBAB",
                    "type": "synonym"
                },
                {
                    "name": "MCDR2",
                    "type": "synonym"
                },
                {
                    "name": "SRXY8",
                    "type": "synonym"
                },
                {
                    "name": "TDD",
                    "type": "synonym"
                }
            ],
            "record_id": "P52895-1",
            "evidence": [
                {
                    "id": "614279",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614279"
                },
                {
                    "id": "0111773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12458-1",
            "uniprot_ac": "Q12458",
            "uniprot_id": "YPR1_YEAST",
            "refseq_ac": "NP_010656",
            "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": "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"
                },
                {
                    "name": "D9481.8",
                    "type": "synonym"
                },
                {
                    "name": "YPR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12458-1",
            "evidence": [
                {
                    "id": "0111773",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111773"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14065-1",
            "uniprot_ac": "P14065",
            "uniprot_id": "GCY1_YEAST",
            "refseq_ac": "NP_014763",
            "glycoprotein": "no",
            "species": [
                {
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}
