{
    "disease_id": "DOID:0111776",
    "recommended_name": {
        "id": "DOID:0111776",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111776",
        "name": "46,XY sex reversal 5",
        "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 homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111776",
            "name": "46,XY gonadal dysgenesis, complete, CBX2-related",
            "description": ""
        },
        {
            "id": "DOID:0111776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111776",
            "name": "46,XY sex reversal, CBX2-related",
            "description": ""
        },
        {
            "id": "DOID:0111776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111776",
            "name": "SRXY5",
            "description": ""
        },
        {
            "id": "DOID:0111776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111776",
            "name": "disorder of sex development, 46,XY, CBX2-related",
            "description": ""
        },
        {
            "id": "DOID:0111776",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111776",
            "name": "sex reversal, XY, CBX2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013120",
            "name": "46,XY sex reversal 5",
            "description": ""
        },
        {
            "id": "MONDO:0013120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013120",
            "name": "46,XY Sex reversal type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013120",
            "name": "46,XY sex reversal 5",
            "description": ""
        },
        {
            "id": "MONDO:0013120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013120",
            "name": "46XY sex reversal 5",
            "description": ""
        },
        {
            "id": "MONDO:0013120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013120",
            "name": "SRXY5",
            "description": ""
        },
        {
            "id": "MIM:613080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613080",
            "name": "46,XY sex reversal 5",
            "description": "46,XY sex reversal 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111776"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111776",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111776",
            "categories": []
        },
        {
            "id": "MONDO:0013120",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013120",
            "categories": []
        },
        {
            "id": "MIM:613080",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613080",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UZW1-1",
            "uniprot_ac": "A0A8N7UZW1",
            "uniprot_id": "A0A8N7UZW1_DANRE",
            "refseq_ac": "NP_919354",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromobox protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "chromobox protein homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cbx2",
                    "type": "recommended"
                },
                {
                    "name": "cbx2",
                    "type": "synonym"
                },
                {
                    "name": "pc1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd20e09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103563",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UZW1-1",
            "evidence": [
                {
                    "id": "0111776",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111776"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30658-1",
            "uniprot_ac": "P30658",
            "uniprot_id": "CBX2_MOUSE",
            "refseq_ac": "NP_031649",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromobox protein homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "M33 polycomb-like protein",
                    "type": "synonym"
                },
                {
                    "name": "M33",
                    "type": "synonym"
                },
                {
                    "name": "Modifier 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "chromobox homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "chromobox protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "modifier 3 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cbx2",
                    "type": "recommended"
                },
                {
                    "name": "Cbx2",
                    "type": "synonym"
                },
                {
                    "name": "M33",
                    "type": "synonym"
                },
                {
                    "name": "MOD2",
                    "type": "synonym"
                },
                {
                    "name": "pc",
                    "type": "synonym"
                }
            ],
            "record_id": "P30658-1",
            "evidence": [
                {
                    "id": "0111776",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111776"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14781-1",
            "uniprot_ac": "Q14781",
            "uniprot_id": "CBX2_HUMAN",
            "refseq_ac": "NP_005180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromobox protein homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Pc class homolog",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle associated 6",
                    "type": "synonym"
                },
                {
                    "name": "chromobox homolog 2 (Pc class homolog, Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "chromobox protein homolog 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "chromobox protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "modifier 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CBX2",
                    "type": "recommended"
                },
                {
                    "name": "CBX2",
                    "type": "synonym"
                },
                {
                    "name": "CDCA6",
                    "type": "synonym"
                },
                {
                    "name": "M33",
                    "type": "synonym"
                },
                {
                    "name": "SRXY5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14781-1",
            "evidence": [
                {
                    "id": "613080",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613080"
                },
                {
                    "id": "0111776",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111776"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RE14-1",
            "uniprot_ac": "M0RE14",
            "uniprot_id": "M0RE14_RAT",
            "refseq_ac": "NP_001100541",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromobox 2",
                    "type": "synonym"
                },
                {
                    "name": "chromobox homolog 2 (Pc class homolog, Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "chromobox protein homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cbx2",
                    "type": "recommended"
                },
                {
                    "name": "Cbx2",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RE14-1",
            "evidence": [
                {
                    "id": "0111776",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111776"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111776"
}