{
    "disease_id": "DOID:0080500",
    "recommended_name": {
        "id": "DOID:0080500",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080500",
        "name": "ovarian dysgenesis 8",
        "description": "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0032590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032590",
            "name": "ovarian dysgenesis 8",
            "description": ""
        },
        {
            "id": "MONDO:0032590",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032590",
            "name": "ODG8",
            "description": ""
        },
        {
            "id": "MIM:618187",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618187",
            "name": "Ovarian dysgenesis 8",
            "description": "Ovarian dysgenesis 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080500"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080500",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080500",
            "categories": []
        },
        {
            "id": "MONDO:0032590",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032590",
            "categories": []
        },
        {
            "id": "MIM:618187",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618187",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B359-1",
            "uniprot_ac": "A0A8M2B359",
            "uniprot_id": "A0A8M2B359_DANRE",
            "refseq_ac": "XP_005157029",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Estrogen receptor 2b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor 2b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "esr2b",
                    "type": "recommended"
                },
                {
                    "name": "ER[b]1",
                    "type": "synonym"
                },
                {
                    "name": "abrrl6",
                    "type": "synonym"
                },
                {
                    "name": "esr2b",
                    "type": "synonym"
                },
                {
                    "name": "zfER-beta1",
                    "type": "synonym"
                },
                {
                    "name": "zfER[b]1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B359-1",
            "evidence": [
                {
                    "id": "0080500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08537-1",
            "uniprot_ac": "O08537",
            "uniprot_id": "ESR2_MOUSE",
            "refseq_ac": "NP_034287",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Estrogen receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "ER-beta",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 3 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "oestrogen receptor beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Esr2",
                    "type": "recommended"
                },
                {
                    "name": "ER[b]",
                    "type": "synonym"
                },
                {
                    "name": "ERbeta",
                    "type": "synonym"
                },
                {
                    "name": "Esr2",
                    "type": "synonym"
                },
                {
                    "name": "Estrb",
                    "type": "synonym"
                },
                {
                    "name": "Nr3a2",
                    "type": "synonym"
                }
            ],
            "record_id": "O08537-1",
            "evidence": [
                {
                    "id": "0080500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92731-1",
            "uniprot_ac": "Q92731",
            "uniprot_id": "ESR2_HUMAN",
            "refseq_ac": "NP_001035365",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Estrogen receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "ER-beta",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor beta 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor beta 4",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 3 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "oestrogen receptor beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ESR2",
                    "type": "recommended"
                },
                {
                    "name": "ER-BETA",
                    "type": "synonym"
                },
                {
                    "name": "ESR-BETA",
                    "type": "synonym"
                },
                {
                    "name": "ESR2",
                    "type": "synonym"
                },
                {
                    "name": "ESRB",
                    "type": "synonym"
                },
                {
                    "name": "ESTRB",
                    "type": "synonym"
                },
                {
                    "name": "Erb",
                    "type": "synonym"
                },
                {
                    "name": "NR3A2",
                    "type": "synonym"
                },
                {
                    "name": "ODG8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92731-1",
            "evidence": [
                {
                    "id": "618187",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618187"
                },
                {
                    "id": "0080500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62986-1",
            "uniprot_ac": "Q62986",
            "uniprot_id": "ESR2_RAT",
            "refseq_ac": "NP_036886",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Estrogen receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "ER-beta",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor 2 (ER beta)",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor 2 beta",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 3 group A member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Esr2",
                    "type": "recommended"
                },
                {
                    "name": "ER-beta",
                    "type": "synonym"
                },
                {
                    "name": "ERbeta",
                    "type": "synonym"
                },
                {
                    "name": "Erb2",
                    "type": "synonym"
                },
                {
                    "name": "Erbeta",
                    "type": "synonym"
                },
                {
                    "name": "Esr2",
                    "type": "synonym"
                },
                {
                    "name": "Nr3a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62986-1",
            "evidence": [
                {
                    "id": "0080500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35663-1",
            "uniprot_ac": "P35663",
            "uniprot_id": "CYLC1_HUMAN",
            "refseq_ac": "NP_066941",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cylicin-1",
                    "type": "recommended"
                },
                {
                    "name": "Cylicin I",
                    "type": "synonym"
                },
                {
                    "name": "Multiple-band polypeptide I",
                    "type": "synonym"
                },
                {
                    "name": "cylicin I",
                    "type": "synonym"
                },
                {
                    "name": "cylicin, basic protein of sperm head cytoskeleton 1",
                    "type": "synonym"
                },
                {
                    "name": "cylicin-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple-band polypeptide I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYLC1",
                    "type": "recommended"
                },
                {
                    "name": "CYCL1",
                    "type": "synonym"
                },
                {
                    "name": "CYL1",
                    "type": "synonym"
                },
                {
                    "name": "CYLC1",
                    "type": "synonym"
                },
                {
                    "name": "CYL",
                    "type": "synonym"
                },
                {
                    "name": "SPGFX8",
                    "type": "synonym"
                }
            ],
            "record_id": "P35663-1",
            "evidence": [
                {
                    "id": "0080500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080500"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080500"
}