{
    "disease_id": "DOID:0111772",
    "recommended_name": {
        "id": "DOID:0111772",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111772",
        "name": "46,XY sex reversal 3",
        "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 heterozygous mutation in the NR5A1 gene on chromosome 9q33.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111772",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111772",
            "name": "SRXY3",
            "description": ""
        },
        {
            "id": "DOID:0111772",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111772",
            "name": "disorder of sex development, 46,XY, NR5A1-related",
            "description": ""
        },
        {
            "id": "DOID:0111772",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111772",
            "name": "sex reversal, XY, with or without adrenal failure",
            "description": ""
        },
        {
            "id": "DOID:0111772",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111772",
            "name": "46,XY sex reversal, partial or complete, NR5A1-related",
            "description": ""
        },
        {
            "id": "DOID:0111772",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111772",
            "name": "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure",
            "description": ""
        },
        {
            "id": "MONDO:0013066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013066",
            "name": "46,XY sex reversal 3",
            "description": ""
        },
        {
            "id": "MONDO:0013066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013066",
            "name": "46,XY Sex reversal type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013066",
            "name": "46,XY sex reversal 3",
            "description": ""
        },
        {
            "id": "MONDO:0013066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013066",
            "name": "46XY sex reversal 3",
            "description": ""
        },
        {
            "id": "MONDO:0013066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013066",
            "name": "SRXY3",
            "description": ""
        },
        {
            "id": "MIM:612965",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612965",
            "name": "46,XY sex reversal 3",
            "description": "46,XY sex reversal 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111772"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111772",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111772",
            "categories": []
        },
        {
            "id": "MONDO:0013066",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013066",
            "categories": []
        },
        {
            "id": "MIM:612965",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612965",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QJG0-1",
            "uniprot_ac": "F1QJG0",
            "uniprot_id": "F1QJG0_DANRE",
            "refseq_ac": "XP_021334008",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Steroidogenic factor 1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "steroidogenic factor 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nr5a1a",
                    "type": "recommended"
                },
                {
                    "name": "SF1-A",
                    "type": "synonym"
                },
                {
                    "name": "ff1b",
                    "type": "synonym"
                },
                {
                    "name": "nr5a1a",
                    "type": "synonym"
                },
                {
                    "name": "nr5a4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QJG0-1",
            "evidence": [
                {
                    "id": "0111772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111772"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33242-1",
            "uniprot_ac": "P33242",
            "uniprot_id": "STF1_MOUSE",
            "refseq_ac": "NP_001303616",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Steroidogenic factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Adrenal 4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ELP",
                    "type": "synonym"
                },
                {
                    "name": "Embryonal LTR-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Embryonal long terminal repeat-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Fushi tarazu factor homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 5 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "SF-1",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "type": "synonym"
                },
                {
                    "name": "Steroid hormone receptor Ad4BP",
                    "type": "synonym"
                },
                {
                    "name": "Steroid hydroxylase positive regulator",
                    "type": "synonym"
                },
                {
                    "name": "adrenal 4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "embryonal LTR-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "embryonal long terminal repeat-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fushi tarazu 1 factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "fushi tarazu factor homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "steroid hormone receptor Ad4BP",
                    "type": "synonym"
                },
                {
                    "name": "steroid hydroxylase positive regulator",
                    "type": "synonym"
                },
                {
                    "name": "steroidogenic factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nr5a1",
                    "type": "recommended"
                },
                {
                    "name": "Ad4BP",
                    "type": "synonym"
                },
                {
                    "name": "ELP-3",
                    "type": "synonym"
                },
                {
                    "name": "ELP",
                    "type": "synonym"
                },
                {
                    "name": "Ftz-F1",
                    "type": "synonym"
                },
                {
                    "name": "Ftzf1",
                    "type": "synonym"
                },
                {
                    "name": "Nr5a1",
                    "type": "synonym"
                },
                {
                    "name": "SF-1",
                    "type": "synonym"
                },
                {
                    "name": "SF1",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P33242-1",
            "evidence": [
                {
                    "id": "0111772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111772"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13285-1",
            "uniprot_ac": "Q13285",
            "uniprot_id": "STF1_HUMAN",
            "refseq_ac": "NP_004950",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Steroidogenic factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Adrenal 4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Fushi tarazu factor homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 5 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "SF-1",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "type": "synonym"
                },
                {
                    "name": "Steroid hormone receptor Ad4BP",
                    "type": "synonym"
                },
                {
                    "name": "adrenal 4 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fushi tarazu factor homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "hSF-1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor AdBP4",
                    "type": "synonym"
                },
                {
                    "name": "steroid hormone receptor Ad4BP",
                    "type": "synonym"
                },
                {
                    "name": "steroidogenic factor 1 nuclear receptor",
                    "type": "synonym"
                },
                {
                    "name": "steroidogenic factor 1",
                    "type": "synonym"
                },
                {
                    "name": "steroidogenic factor-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NR5A1",
                    "type": "recommended"
                },
                {
                    "name": "AD4BP",
                    "type": "synonym"
                },
                {
                    "name": "ELP",
                    "type": "synonym"
                },
                {
                    "name": "FTZ1",
                    "type": "synonym"
                },
                {
                    "name": "FTZF1",
                    "type": "synonym"
                },
                {
                    "name": "NR5A1",
                    "type": "synonym"
                },
                {
                    "name": "POF7",
                    "type": "synonym"
                },
                {
                    "name": "SF-1",
                    "type": "synonym"
                },
                {
                    "name": "SF1",
                    "type": "synonym"
                },
                {
                    "name": "SPGF8",
                    "type": "synonym"
                },
                {
                    "name": "SRXX4",
                    "type": "synonym"
                },
                {
                    "name": "SRXY3",
                    "type": "synonym"
                },
                {
                    "name": "hSF-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13285-1",
            "evidence": [
                {
                    "id": "612965",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612965"
                },
                {
                    "id": "0111772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111772"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50569-1",
            "uniprot_ac": "P50569",
            "uniprot_id": "STF1_RAT",
            "refseq_ac": "NP_001178028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Steroidogenic factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Adrenal 4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Fushi tarazu factor homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 5 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "SF-1",
                    "type": "synonym"
                },
                {
                    "name": "STF-1",
                    "type": "synonym"
                },
                {
                    "name": "Steroid hormone receptor Ad4BP",
                    "type": "synonym"
                },
                {
                    "name": "adrenal 4-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fushi tarazu factor homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "steroid hormone receptor Ad4BP",
                    "type": "synonym"
                },
                {
                    "name": "steroidogenic factor 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "steroidogenic factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nr5a1",
                    "type": "recommended"
                },
                {
                    "name": "Ad4BP/SF-1",
                    "type": "synonym"
                },
                {
                    "name": "Ad4bp",
                    "type": "synonym"
                },
                {
                    "name": "Ftzf1",
                    "type": "synonym"
                },
                {
                    "name": "Nr5a1",
                    "type": "synonym"
                },
                {
                    "name": "Sf-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P50569-1",
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                {
                    "id": "0111772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111772"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33244-1",
            "uniprot_ac": "P33244",
            "uniprot_id": "FTZF1_DROME",
            "refseq_ac": "NP_001246824",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear hormone receptor FTZ-F1",
                    "type": "recommended"
                },
                {
                    "name": "CG4059-PC",
                    "type": "synonym"
                },
                {
                    "name": "FTZ-F1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "Ftz interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 5 group A member 3",
                    "type": "synonym"
                },
                {
                    "name": "beta-Ftz transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "betaftz-f1",
                    "type": "synonym"
                },
                {
                    "name": "ftz factor 1",
                    "type": "synonym"
                },
                {
                    "name": "ftz transcription factor 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ftz-f1-PC",
                    "type": "synonym"
                },
                {
                    "name": "ftz-transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "fushi tarazu transcription factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ftz-f1",
                    "type": "recommended"
                },
                {
                    "name": "BFTZ-F1",
                    "type": "synonym"
                },
                {
                    "name": "CG13378",
                    "type": "synonym"
                },
                {
                    "name": "CG4059",
                    "type": "synonym"
                },
                {
                    "name": "DEP1",
                    "type": "synonym"
                },
                {
                    "name": "DmFTZ-F1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4059",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4059",
                    "type": "synonym"
                },
                {
                    "name": "FIP1",
                    "type": "synonym"
                },
                {
                    "name": "FTZ-F1A",
                    "type": "synonym"
                },
                {
                    "name": "FTZ-F1alpha",
                    "type": "synonym"
                },
                {
                    "name": "FTZ-F1",
                    "type": "synonym"
                },
                {
                    "name": "FTZ-Fl",
                    "type": "synonym"
                },
                {
                    "name": "FTZF1",
                    "type": "synonym"
                },
                {
                    "name": "FTZf1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Ftz-F1",
                    "type": "synonym"
                },
                {
                    "name": "Ftz-f1",
                    "type": "synonym"
                },
                {
                    "name": "Ftzf1",
                    "type": "synonym"
                },
                {
                    "name": "NR5A3",
                    "type": "synonym"
                },
                {
                    "name": "alphaFTZ-F1",
                    "type": "synonym"
                },
                {
                    "name": "alphaFTZF1",
                    "type": "synonym"
                },
                {
                    "name": "alphaftz-f1",
                    "type": "synonym"
                },
                {
                    "name": "bFTZ-F1",
                    "type": "synonym"
                },
                {
                    "name": "beta FTZ-F1",
                    "type": "synonym"
                },
                {
                    "name": "beta Ftz-f1",
                    "type": "synonym"
                },
                {
                    "name": "beta-FTZ-F1",
                    "type": "synonym"
                },
                {
                    "name": "beta-Ftz-F1",
                    "type": "synonym"
                },
                {
                    "name": "betaFTZ-F1",
                    "type": "synonym"
                },
                {
                    "name": "betaFTZF1",
                    "type": "synonym"
                },
                {
                    "name": "betaFtz-F1",
                    "type": "synonym"
                },
                {
                    "name": "betaFtz-f1",
                    "type": "synonym"
                },
                {
                    "name": "betaftz-F1",
                    "type": "synonym"
                },
                {
                    "name": "betaftz-f1",
                    "type": "synonym"
                },
                {
                    "name": "betaftzf1",
                    "type": "synonym"
                },
                {
                    "name": "dFTZ-F1alpha",
                    "type": "synonym"
                },
                {
                    "name": "dFtz-F1alpha",
                    "type": "synonym"
                },
                {
                    "name": "dmFTZ-f1",
                    "type": "synonym"
                },
                {
                    "name": "ftz-F1",
                    "type": "synonym"
                },
                {
                    "name": "ftz-f1alpha",
                    "type": "synonym"
                },
                {
                    "name": "ftz-f1",
                    "type": "synonym"
                },
                {
                    "name": "ftzF1",
                    "type": "synonym"
                },
                {
                    "name": "ftz_f1",
                    "type": "synonym"
                },
                {
                    "name": "ftzf1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)03649",
                    "type": "synonym"
                }
            ],
            "record_id": "P33244-1",
            "evidence": [
                {
                    "id": "0111772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111772"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111772"
}