{
    "disease_id": "DOID:0080865",
    "recommended_name": {
        "id": "DOID:0080865",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080865",
        "name": "primary ovarian insufficiency 8",
        "description": "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0014321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014321",
            "name": "premature ovarian failure 8",
            "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene."
        },
        {
            "id": "MONDO:0014321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014321",
            "name": "STAG3 primary ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0014321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014321",
            "name": "premature ovarian failure 8",
            "description": ""
        },
        {
            "id": "MONDO:0014321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014321",
            "name": "premature ovarian failure type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014321",
            "name": "primary ovarian failure caused by mutation in STAG3",
            "description": ""
        },
        {
            "id": "MONDO:0014321",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014321",
            "name": "POF8",
            "description": ""
        },
        {
            "id": "MIM:615723",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615723",
            "name": "Premature ovarian failure 8",
            "description": "Premature ovarian failure 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080865"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080865",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080865",
            "categories": []
        },
        {
            "id": "MONDO:0014321",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014321",
            "categories": []
        },
        {
            "id": "MIM:615723",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615723",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O70576-1",
            "uniprot_ac": "O70576",
            "uniprot_id": "STAG3_MOUSE",
            "refseq_ac": "NP_058660",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cohesin subunit SA-3",
                    "type": "recommended"
                },
                {
                    "name": "SCC3 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Stromal antigen 3",
                    "type": "synonym"
                },
                {
                    "name": "Stromalin-3",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-3",
                    "type": "synonym"
                },
                {
                    "name": "stromal antigen 3",
                    "type": "synonym"
                },
                {
                    "name": "stromalin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stag3",
                    "type": "recommended"
                },
                {
                    "name": "SA-2",
                    "type": "synonym"
                },
                {
                    "name": "Stag3",
                    "type": "synonym"
                }
            ],
            "record_id": "O70576-1",
            "evidence": [
                {
                    "id": "0080865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UJ98-1",
            "uniprot_ac": "Q9UJ98",
            "uniprot_id": "STAG3_HUMAN",
            "refseq_ac": "NP_001269645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cohesin subunit SA-3",
                    "type": "recommended"
                },
                {
                    "name": "SCC3 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Stromal antigen 3",
                    "type": "synonym"
                },
                {
                    "name": "Stromalin-3",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-3",
                    "type": "synonym"
                },
                {
                    "name": "stromal antigen 3",
                    "type": "synonym"
                },
                {
                    "name": "stromalin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STAG3",
                    "type": "recommended"
                },
                {
                    "name": "SA3",
                    "type": "synonym"
                },
                {
                    "name": "SPGF61",
                    "type": "synonym"
                },
                {
                    "name": "STAG3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJ98-1",
            "evidence": [
                {
                    "id": "615723",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615723"
                },
                {
                    "id": "0080865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40541-1",
            "uniprot_ac": "P40541",
            "uniprot_id": "SCC3_YEAST",
            "refseq_ac": "NP_012238",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cohesin subunit SCC3",
                    "type": "recommended"
                },
                {
                    "name": "Irregular cell behavior protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit IRR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IRR1",
                    "type": "recommended"
                },
                {
                    "name": "IRR1",
                    "type": "synonym"
                },
                {
                    "name": "SCC3",
                    "type": "synonym"
                }
            ],
            "record_id": "P40541-1",
            "evidence": [
                {
                    "id": "0080865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99M76-1",
            "uniprot_ac": "Q99M76",
            "uniprot_id": "STAG3_RAT",
            "refseq_ac": "NP_446182",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cohesin subunit SA-3",
                    "type": "recommended"
                },
                {
                    "name": "SCC3 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Stromal antigen 3",
                    "type": "synonym"
                },
                {
                    "name": "Stromalin-3",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-3-like",
                    "type": "synonym"
                },
                {
                    "name": "cohesin subunit SA-3",
                    "type": "synonym"
                },
                {
                    "name": "stromal antigen 3",
                    "type": "synonym"
                },
                {
                    "name": "stromalin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stag3",
                    "type": "recommended"
                },
                {
                    "name": "Stag3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99M76-1",
            "evidence": [
                {
                    "id": "0080865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0F4-1",
            "uniprot_ac": "Q9W0F4",
            "uniprot_id": "Q9W0F4_DROME",
            "refseq_ac": "NP_612109",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG13916-PC",
                    "type": "synonym"
                },
                {
                    "name": "SA2-PC",
                    "type": "synonym"
                },
                {
                    "name": "Stromalin 2",
                    "type": "synonym"
                },
                {
                    "name": "Stromalin-2",
                    "type": "synonym"
                },
                {
                    "name": "complementation group 1",
                    "type": "synonym"
                },
                {
                    "name": "pairing failure-1",
                    "type": "synonym"
                },
                {
                    "name": "stromalin 2",
                    "type": "synonym"
                },
                {
                    "name": "stromalin in meiosis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SA2",
                    "type": "recommended"
                },
                {
                    "name": "CG13916",
                    "type": "synonym"
                },
                {
                    "name": "CG1",
                    "type": "synonym"
                },
                {
                    "name": "DSA2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13916",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13916",
                    "type": "synonym"
                },
                {
                    "name": "SA-2",
                    "type": "synonym"
                },
                {
                    "name": "SA2",
                    "type": "synonym"
                },
                {
                    "name": "SNM",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.35",
                    "type": "synonym"
                },
                {
                    "name": "pf-1",
                    "type": "synonym"
                },
                {
                    "name": "snm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0F4-1",
            "evidence": [
                {
                    "id": "0080865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM62-1",
            "uniprot_ac": "Q9VM62",
            "uniprot_id": "Q9VM62_DROME",
            "refseq_ac": "NP_477268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3423-PA",
                    "type": "synonym"
                },
                {
                    "name": "SA1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Stromalin 1",
                    "type": "synonym"
                },
                {
                    "name": "cohesin",
                    "type": "synonym"
                },
                {
                    "name": "stromalin 1",
                    "type": "synonym"
                },
                {
                    "name": "stromalin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SA1",
                    "type": "recommended"
                },
                {
                    "name": "CG3423",
                    "type": "synonym"
                },
                {
                    "name": "DSA1",
                    "type": "synonym"
                },
                {
                    "name": "DSA",
                    "type": "synonym"
                },
                {
                    "name": "DmSA",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3423",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3423",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:92H2T",
                    "type": "synonym"
                },
                {
                    "name": "SA-1",
                    "type": "synonym"
                },
                {
                    "name": "SA1",
                    "type": "synonym"
                },
                {
                    "name": "SA",
                    "type": "synonym"
                },
                {
                    "name": "SCC3",
                    "type": "synonym"
                },
                {
                    "name": "Scc3",
                    "type": "synonym"
                },
                {
                    "name": "stromalin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM62-1",
            "evidence": [
                {
                    "id": "0080865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080865"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080865"
}