{
    "disease_id": "DOID:0111778",
    "recommended_name": {
        "id": "DOID:0111778",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111778",
        "name": "46,XY sex reversal 1",
        "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 hemizygous mutation in SRY on chromosome Yp11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111778",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111778",
            "name": "46,XY gonadal dysgenesis, complete, SRY-related",
            "description": ""
        },
        {
            "id": "DOID:0111778",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111778",
            "name": "46,XY sex reversal, SRY-related",
            "description": ""
        },
        {
            "id": "DOID:0111778",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111778",
            "name": "SRXY1",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY sex reversal 1",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY gonadal dysgenesis, complete, SRY-related",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY sex reversal 1",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY sex reversal type 1",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY sex reversal, SRY-related",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY true hermaphroditism, SRY-related",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46XY sex reversal 1, Y-linked",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "SRXY1",
            "description": ""
        },
        {
            "id": "MIM:400044",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/400044",
            "name": "46,XY sex reversal 1",
            "description": "46,XY sex reversal 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111778"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111778",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111778",
            "categories": []
        },
        {
            "id": "MONDO:0020712",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "categories": []
        },
        {
            "id": "MIM:400044",
            "database": "MIM",
            "url": "https://www.omim.org/entry/400044",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q05738-1",
            "uniprot_ac": "Q05738",
            "uniprot_id": "SRY_MOUSE",
            "refseq_ac": "NP_035694",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sex-determining region Y protein",
                    "type": "recommended"
                },
                {
                    "name": "Testis-determining factor",
                    "type": "synonym"
                },
                {
                    "name": "sex-determining region Y protein",
                    "type": "synonym"
                },
                {
                    "name": "testis determining-Y",
                    "type": "synonym"
                },
                {
                    "name": "testis-determining factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sry",
                    "type": "recommended"
                },
                {
                    "name": "Sry",
                    "type": "synonym"
                },
                {
                    "name": "Tdf",
                    "type": "synonym"
                },
                {
                    "name": "Tdy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05738-1",
            "evidence": [
                {
                    "id": "0111778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05066-1",
            "uniprot_ac": "Q05066",
            "uniprot_id": "SRY_HUMAN",
            "refseq_ac": "NP_003131",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sex-determining region Y protein",
                    "type": "recommended"
                },
                {
                    "name": "Testis-determining factor",
                    "type": "synonym"
                },
                {
                    "name": "essential protein for sex determination in human males",
                    "type": "synonym"
                },
                {
                    "name": "sex-determining region Y protein",
                    "type": "synonym"
                },
                {
                    "name": "sex-determining region on Y",
                    "type": "synonym"
                },
                {
                    "name": "testis-determining factor on Y",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRY",
                    "type": "recommended"
                },
                {
                    "name": "SRXX1",
                    "type": "synonym"
                },
                {
                    "name": "SRXY1",
                    "type": "synonym"
                },
                {
                    "name": "SRY",
                    "type": "synonym"
                },
                {
                    "name": "TDF",
                    "type": "synonym"
                },
                {
                    "name": "TDY",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05066-1",
            "evidence": [
                {
                    "id": "400044",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/400044"
                },
                {
                    "id": "0111778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36394-1",
            "uniprot_ac": "P36394",
            "uniprot_id": "SRY_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sex-determining region Y protein",
                    "type": "recommended"
                },
                {
                    "name": "Testis-determining factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sry",
                    "type": "recommended"
                },
                {
                    "name": "Sry3b2",
                    "type": "synonym"
                },
                {
                    "name": "Tdf",
                    "type": "synonym"
                }
            ],
            "record_id": "P36394-1",
            "evidence": [
                {
                    "id": "0111778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111778"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERV4-1",
            "uniprot_ac": "Q9ERV4",
            "uniprot_id": "Q9ERV4_RAT",
            "refseq_ac": "NP_001403668",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sex-determining region Y protein",
                    "type": "recommended"
                },
                {
                    "name": "HMG box transcription factor Sry3",
                    "type": "synonym"
                },
                {
                    "name": "Testis-determining factor",
                    "type": "synonym"
                },
                {
                    "name": "sex-determining region Y protein-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC134484451",
                    "type": "recommended"
                },
                {
                    "name": "Sry3A",
                    "type": "synonym"
                },
                {
                    "name": "Sry3B1",
                    "type": "synonym"
                },
                {
                    "name": "Sry3C",
                    "type": "synonym"
                },
                {
                    "name": "Sry3a",
                    "type": "synonym"
                },
                {
                    "name": "Sry3b1",
                    "type": "synonym"
                },
                {
                    "name": "Sry3c",
                    "type": "synonym"
                },
                {
                    "name": "Sry3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERV4-1",
            "evidence": [
                {
                    "id": "0111778",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111778"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111778"
}