{
    "disease_id": "DOID:0080943",
    "recommended_name": {
        "id": "DOID:0080943",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080943",
        "name": "46,XX sex reversal 5",
        "description": "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0030049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030049",
            "name": "46,xx sex reversal 5",
            "description": ""
        },
        {
            "id": "MONDO:0030049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030049",
            "name": "46,XX SEX REVERSAL 5",
            "description": ""
        },
        {
            "id": "MONDO:0030049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030049",
            "name": "46,xx sex reversal 5",
            "description": ""
        },
        {
            "id": "MONDO:0030049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030049",
            "name": "SRXX5",
            "description": ""
        },
        {
            "id": "MIM:618901",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618901",
            "name": "46,XX sex reversal 5",
            "description": "46,XX sex reversal 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080943"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080943",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080943",
            "categories": []
        },
        {
            "id": "MONDO:0030049",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030049",
            "categories": []
        },
        {
            "id": "MIM:618901",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618901",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T5U5-1",
            "uniprot_ac": "A0AB32T5U5",
            "uniprot_id": "A0AB32T5U5_DANRE",
            "refseq_ac": "XP_068070812",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "COUP transcription factor 2 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "nr2f2",
                    "type": "recommended"
                },
                {
                    "name": "COUP-TF",
                    "type": "synonym"
                },
                {
                    "name": "nr2f2",
                    "type": "synonym"
                },
                {
                    "name": "svp40",
                    "type": "synonym"
                },
                {
                    "name": "svp[40]",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc94g08",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080943",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080943"
                }
            ]
        },
        {
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            "uniprot_ac": "P43135",
            "uniprot_id": "COT2_MOUSE",
            "refseq_ac": "NP_033827",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "COUP transcription factor 2",
                    "type": "recommended"
                },
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                    "name": "ARP-1",
                    "type": "synonym"
                },
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                    "name": "Apolipoprotein AI regulatory protein 1",
                    "type": "synonym"
                },
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                    "type": "synonym"
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                    "name": "COUP transcription factor 2",
                    "type": "synonym"
                },
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                    "name": "COUP transcription factor II",
                    "type": "synonym"
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                    "name": "Nuclear receptor subfamily 2 group F member 2",
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                },
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                    "type": "synonym"
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            ],
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                {
                    "name": "Nr2f2",
                    "type": "recommended"
                },
                {
                    "name": "2700033K02Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430015G03Rik",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
                {
                    "name": "Aporp1",
                    "type": "synonym"
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                    "type": "synonym"
                },
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                    "name": "Arp1",
                    "type": "synonym"
                },
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                    "name": "COUP-TF2",
                    "type": "synonym"
                },
                {
                    "name": "COUP-TFII",
                    "type": "synonym"
                },
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                    "name": "COUPTFB",
                    "type": "synonym"
                },
                {
                    "name": "EAR3",
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                },
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                    "name": "Nr2f2",
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                },
                {
                    "name": "SVP40",
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                },
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                    "name": "Tcfcoup2",
                    "type": "synonym"
                },
                {
                    "name": "Tfcoup2",
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            ],
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                    "id": "0080943",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P24468-1",
            "uniprot_ac": "P24468",
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            "refseq_ac": "NP_001138627",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "COUP transcription factor 2",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor related protein 1",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
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                    "name": "Apolipoprotein A-I regulatory protein 1",
                    "type": "synonym"
                },
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                },
                {
                    "name": "COUP transcription factor II",
                    "type": "synonym"
                },
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                    "name": "COUP-TF II",
                    "type": "synonym"
                },
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                    "name": "COUP-TF2",
                    "type": "synonym"
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                {
                    "name": "Nuclear receptor subfamily 2 group F member 2",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A-I regulatory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein AI regulatory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "chicken ovalbumin upstream promoter transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "chicken ovalbumin upstream promoter-transcription factor I",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "NR2F2",
                    "type": "recommended"
                },
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                    "name": "ARP-1",
                    "type": "synonym"
                },
                {
                    "name": "ARP1",
                    "type": "synonym"
                },
                {
                    "name": "CHTD4",
                    "type": "synonym"
                },
                {
                    "name": "COUPTF2",
                    "type": "synonym"
                },
                {
                    "name": "COUPTFB",
                    "type": "synonym"
                },
                {
                    "name": "COUPTFII",
                    "type": "synonym"
                },
                {
                    "name": "NF-E3",
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                },
                {
                    "name": "NR2F2",
                    "type": "synonym"
                },
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                    "name": "SRXX5",
                    "type": "synonym"
                },
                {
                    "name": "SVP40",
                    "type": "synonym"
                },
                {
                    "name": "TFCOUP2",
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                }
            ],
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                    "id": "0080943",
                    "database": "AGR",
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                }
            ]
        },
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            "uniprot_canonical_ac": "O09018-1",
            "uniprot_ac": "O09018",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "COUP transcription factor 2",
                    "type": "recommended"
                },
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                },
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                    "type": "synonym"
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                {
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                {
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                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "ovalbumin upstream promoter beta nuclear receptor",
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                },
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                    "id": "0080943",
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            "uniprot_ac": "P16376",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Steroid receptor seven-up, isoform A",
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                },
                {
                    "name": "down-and-out",
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                },
                {
                    "name": "seven Up",
                    "type": "synonym"
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                    "name": "seven up, isoform A",
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                    "name": "20",
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                    "name": "CG18158",
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                    "name": "Dmel\\CG11502",
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                    "name": "Dmel_CG11502",
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                    "name": "Seven-up",
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                    "name": "Svp",
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                    "name": "ck16",
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                    "name": "don",
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                    "name": "l(3)07842",
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                    "name": "l(3)87Bd",
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                    "name": "l(3)ck16",
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                    "name": "l(3)j2E2",
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                    "name": "l(3)rA028",
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                    "name": "l(3)rL069",
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                    "id": "0080943",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080943"
}