{
    "disease_id": "DOID:0111777",
    "recommended_name": {
        "id": "DOID:0111777",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111777",
        "name": "46,XY sex reversal 2",
        "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 duplication of the NR0B1 gene on chromosome Xp21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111777",
            "name": "46,XY sex reversal, DAX1-related",
            "description": ""
        },
        {
            "id": "DOID:0111777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111777",
            "name": "46XY sex reversal 2, dosage-sensitive",
            "description": ""
        },
        {
            "id": "DOID:0111777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111777",
            "name": "SRXY2",
            "description": ""
        },
        {
            "id": "DOID:0111777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111777",
            "name": "dosage-sensitive sex reversal",
            "description": ""
        },
        {
            "id": "MONDO:0010226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010226",
            "name": "46,XY sex reversal 2",
            "description": ""
        },
        {
            "id": "MONDO:0010226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010226",
            "name": "46,XY Sex reversal type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010226",
            "name": "46,XY sex reversal 2",
            "description": ""
        },
        {
            "id": "MONDO:0010226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010226",
            "name": "SRXY2",
            "description": ""
        },
        {
            "id": "MIM:300018",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300018",
            "name": "46,XY sex reversal 2",
            "description": "46,XY sex reversal 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111777"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111777",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111777",
            "categories": []
        },
        {
            "id": "MONDO:0010226",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010226",
            "categories": []
        },
        {
            "id": "MIM:300018",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300018",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61066-1",
            "uniprot_ac": "Q61066",
            "uniprot_id": "NR0B1_MOUSE",
            "refseq_ac": "NP_031456",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear receptor subfamily 0 group B member 1",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor DAX-1",
                    "type": "synonym"
                },
                {
                    "name": "adrenal hypoplasia congenita-like protein",
                    "type": "synonym"
                },
                {
                    "name": "adrenal hypoplasia, congenital homolog",
                    "type": "synonym"
                },
                {
                    "name": "mDax1- 190",
                    "type": "synonym"
                },
                {
                    "name": "mDax1- 202",
                    "type": "synonym"
                },
                {
                    "name": "mDax1- 278",
                    "type": "synonym"
                },
                {
                    "name": "mDax1- 331",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor DAX-1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 0 group B member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nr0b1",
                    "type": "recommended"
                },
                {
                    "name": "AHX",
                    "type": "synonym"
                },
                {
                    "name": "Ahch",
                    "type": "synonym"
                },
                {
                    "name": "Ahc",
                    "type": "synonym"
                },
                {
                    "name": "DAX-1",
                    "type": "synonym"
                },
                {
                    "name": "Dax1",
                    "type": "synonym"
                },
                {
                    "name": "Nr0b1",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-134",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-218",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-225",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-249",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-292",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-297",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-300",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-308",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-318",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-329",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-337",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-344",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-38",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-404",
                    "type": "synonym"
                },
                {
                    "name": "mDax1-472",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61066-1",
            "evidence": [
                {
                    "id": "0111777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111777"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51843-1",
            "uniprot_ac": "P51843",
            "uniprot_id": "NR0B1_HUMAN",
            "refseq_ac": "NP_000466",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear receptor subfamily 0 group B member 1",
                    "type": "recommended"
                },
                {
                    "name": "DSS-AHC critical region on the X chromosome protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor DAX-1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor DAX-1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 0 group B member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NR0B1",
                    "type": "recommended"
                },
                {
                    "name": "AHCH",
                    "type": "synonym"
                },
                {
                    "name": "AHC",
                    "type": "synonym"
                },
                {
                    "name": "AHX",
                    "type": "synonym"
                },
                {
                    "name": "DAX-1",
                    "type": "synonym"
                },
                {
                    "name": "DAX1",
                    "type": "synonym"
                },
                {
                    "name": "DSS",
                    "type": "synonym"
                },
                {
                    "name": "GTD",
                    "type": "synonym"
                },
                {
                    "name": "HHG",
                    "type": "synonym"
                },
                {
                    "name": "NR0B1",
                    "type": "synonym"
                },
                {
                    "name": "NROB1",
                    "type": "synonym"
                },
                {
                    "name": "SRXY2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51843-1",
            "evidence": [
                {
                    "id": "300018",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300018"
                },
                {
                    "id": "0111777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111777"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70503-1",
            "uniprot_ac": "P70503",
            "uniprot_id": "NR0B1_RAT",
            "refseq_ac": "NP_445769",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear receptor subfamily 0 group B member 1",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor DAX-1",
                    "type": "synonym"
                },
                {
                    "name": "adrenal hypoplasia, congenital homolog",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor DAX-1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 0 group B member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nr0b1",
                    "type": "recommended"
                },
                {
                    "name": "Ahch",
                    "type": "synonym"
                },
                {
                    "name": "DAX-1",
                    "type": "synonym"
                },
                {
                    "name": "Dax1",
                    "type": "synonym"
                },
                {
                    "name": "Nr0b1",
                    "type": "synonym"
                }
            ],
            "record_id": "P70503-1",
            "evidence": [
                {
                    "id": "0111777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111777"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111777"
}