{
    "disease_id": "DOID:0111770",
    "recommended_name": {
        "id": "DOID:0111770",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111770",
        "name": "46,XY sex reversal 9",
        "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 ZFPM2 gene on chromosome 8q23.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111770",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111770",
            "name": "46,XY sex reversal, ZFPM2-related",
            "description": ""
        },
        {
            "id": "DOID:0111770",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111770",
            "name": "SRXY9",
            "description": ""
        },
        {
            "id": "MONDO:0014480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014480",
            "name": "46,XY sex reversal 9",
            "description": ""
        },
        {
            "id": "MONDO:0014480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014480",
            "name": "46,XY Sex reversal type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014480",
            "name": "46,XY sex reversal 9",
            "description": ""
        },
        {
            "id": "MONDO:0014480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014480",
            "name": "46XY sex reversal 9",
            "description": ""
        },
        {
            "id": "MONDO:0014480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014480",
            "name": "SRXY9",
            "description": ""
        },
        {
            "id": "MIM:616067",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616067",
            "name": "46,XY sex reversal 9",
            "description": "46,XY sex reversal 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111770"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111770",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111770",
            "categories": []
        },
        {
            "id": "MONDO:0014480",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014480",
            "categories": []
        },
        {
            "id": "MIM:616067",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616067",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R4T3-1",
            "uniprot_ac": "F1R4T3",
            "uniprot_id": "F1R4T3_DANRE",
            "refseq_ac": "XP_009290873",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein ZFPM2a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein ZFPM2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zfpm2a",
                    "type": "recommended"
                },
                {
                    "name": "FOG-A",
                    "type": "synonym"
                },
                {
                    "name": "fog2a",
                    "type": "synonym"
                },
                {
                    "name": "zfpm2a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152696",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R4T3-1",
            "evidence": [
                {
                    "id": "0111770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CCH7-1",
            "uniprot_ac": "Q8CCH7",
            "uniprot_id": "FOG2_MOUSE",
            "refseq_ac": "NP_035896",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein ZFPM2",
                    "type": "recommended"
                },
                {
                    "name": "FOG-2",
                    "type": "synonym"
                },
                {
                    "name": "Friend of GATA 2",
                    "type": "synonym"
                },
                {
                    "name": "Friend of GATA protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein multitype 2",
                    "type": "synonym"
                },
                {
                    "name": "friend of GATA protein 2",
                    "type": "synonym"
                },
                {
                    "name": "friend of GATA-1 2",
                    "type": "synonym"
                },
                {
                    "name": "friend of GATA-2",
                    "type": "synonym"
                },
                {
                    "name": "mFOG-2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein ZFPM2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein ZFPM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfpm2",
                    "type": "recommended"
                },
                {
                    "name": "B330005D23Rik",
                    "type": "synonym"
                },
                {
                    "name": "FOG-2",
                    "type": "synonym"
                },
                {
                    "name": "FOG2",
                    "type": "synonym"
                },
                {
                    "name": "Fog2",
                    "type": "synonym"
                },
                {
                    "name": "Zfpm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CCH7-1",
            "evidence": [
                {
                    "id": "0111770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WW38-1",
            "uniprot_ac": "Q8WW38",
            "uniprot_id": "FOG2_HUMAN",
            "refseq_ac": "NP_036214",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein ZFPM2",
                    "type": "recommended"
                },
                {
                    "name": "FOG-2",
                    "type": "synonym"
                },
                {
                    "name": "Friend of GATA 2",
                    "type": "synonym"
                },
                {
                    "name": "Friend of GATA protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Friend of GATA2",
                    "type": "synonym"
                },
                {
                    "name": "PR/SET domain 19",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 89B",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein multitype 2",
                    "type": "synonym"
                },
                {
                    "name": "friend of GATA 2",
                    "type": "synonym"
                },
                {
                    "name": "friend of GATA protein 2",
                    "type": "synonym"
                },
                {
                    "name": "hFOG-2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA4, modulator of",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 89B",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein ZFPM2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein ZFPM2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein, multitype 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZFPM2",
                    "type": "recommended"
                },
                {
                    "name": "DIH3",
                    "type": "synonym"
                },
                {
                    "name": "FOG2",
                    "type": "synonym"
                },
                {
                    "name": "PRDM19",
                    "type": "synonym"
                },
                {
                    "name": "SRXY9",
                    "type": "synonym"
                },
                {
                    "name": "ZC2HC11B",
                    "type": "synonym"
                },
                {
                    "name": "ZFPM2",
                    "type": "synonym"
                },
                {
                    "name": "ZNF89B",
                    "type": "synonym"
                },
                {
                    "name": "hFOG-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WW38-1",
            "evidence": [
                {
                    "id": "616067",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616067"
                },
                {
                    "id": "0111770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A0R1-1",
            "uniprot_ac": "D4A0R1",
            "uniprot_id": "D4A0R1_RAT",
            "refseq_ac": "NP_001123973",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein ZFPM2",
                    "type": "recommended"
                },
                {
                    "name": "Friend of GATA protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein multitype 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein ZFPM2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein ZFPM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfpm2",
                    "type": "recommended"
                },
                {
                    "name": "FOG-2",
                    "type": "synonym"
                },
                {
                    "name": "Zfpm2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A0R1-1",
            "evidence": [
                {
                    "id": "0111770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111770"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPQ6-1",
            "uniprot_ac": "Q9VPQ6",
            "uniprot_id": "USH_DROME",
            "refseq_ac": "NP_476780",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein ush",
                    "type": "recommended"
                },
                {
                    "name": "CG2762-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein U-shaped",
                    "type": "synonym"
                },
                {
                    "name": "U-shaped",
                    "type": "synonym"
                },
                {
                    "name": "drosophila friend of GATA",
                    "type": "synonym"
                },
                {
                    "name": "u-shaped, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "ush-PA",
                    "type": "synonym"
                },
                {
                    "name": "ushaped",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ush",
                    "type": "recommended"
                },
                {
                    "name": "CG2762",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2762",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2762",
                    "type": "synonym"
                },
                {
                    "name": "FOG",
                    "type": "synonym"
                },
                {
                    "name": "USH",
                    "type": "synonym"
                },
                {
                    "name": "Ush",
                    "type": "synonym"
                },
                {
                    "name": "ZFPM2",
                    "type": "synonym"
                },
                {
                    "name": "dFOG",
                    "type": "synonym"
                },
                {
                    "name": "l(2)19",
                    "type": "synonym"
                },
                {
                    "name": "u-sh",
                    "type": "synonym"
                },
                {
                    "name": "ushaped",
                    "type": "synonym"
                },
                {
                    "name": "ush",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPQ6-1",
            "evidence": [
                {
                    "id": "0111770",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111770"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111770"
}