{
    "disease_id": "DOID:0080869",
    "recommended_name": {
        "id": "DOID:0080869",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080869",
        "name": "primary ovarian insufficiency 12",
        "description": "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0014844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014844",
            "name": "premature ovarian failure 12",
            "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene."
        },
        {
            "id": "MONDO:0014844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014844",
            "name": "POF12",
            "description": ""
        },
        {
            "id": "MONDO:0014844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014844",
            "name": "SYCE1 primary ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0014844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014844",
            "name": "premature ovarian failure 12",
            "description": ""
        },
        {
            "id": "MONDO:0014844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014844",
            "name": "premature ovarian failure 12; POF12",
            "description": ""
        },
        {
            "id": "MONDO:0014844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014844",
            "name": "premature ovarian failure type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014844",
            "name": "primary ovarian failure caused by mutation in SYCE1",
            "description": ""
        },
        {
            "id": "MIM:616947",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616947",
            "name": "Premature ovarian failure 12",
            "description": "Premature ovarian failure 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080869"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080869",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080869",
            "categories": []
        },
        {
            "id": "MONDO:0014844",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014844",
            "categories": []
        },
        {
            "id": "MIM:616947",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616947",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D495-1",
            "uniprot_ac": "Q9D495",
            "uniprot_id": "SYCE1_MOUSE",
            "refseq_ac": "NP_001137237",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptonemal complex central element protein 1",
                    "type": "recommended"
                },
                {
                    "name": "synaptonemal complex central element protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syce1",
                    "type": "recommended"
                },
                {
                    "name": "4933406J07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Syce1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D495-1",
            "evidence": [
                {
                    "id": "0080869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N0S2-1",
            "uniprot_ac": "Q8N0S2",
            "uniprot_id": "SYCE1_HUMAN",
            "refseq_ac": "NP_570140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptonemal complex central element protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CT76",
                    "type": "synonym"
                },
                {
                    "name": "Cancer/testis antigen 76",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 76",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "synaptonemal complex central element protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYCE1",
                    "type": "recommended"
                },
                {
                    "name": "C10orf94",
                    "type": "synonym"
                },
                {
                    "name": "CT76",
                    "type": "synonym"
                },
                {
                    "name": "POF12",
                    "type": "synonym"
                },
                {
                    "name": "SPGF15",
                    "type": "synonym"
                },
                {
                    "name": "SYCE1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N0S2-1",
            "evidence": [
                {
                    "id": "616947",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616947"
                },
                {
                    "id": "0080869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XHZ2-1",
            "uniprot_ac": "Q5XHZ2",
            "uniprot_id": "SYCE1_RAT",
            "refseq_ac": "NP_001020229",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptonemal complex central element protein 1",
                    "type": "recommended"
                },
                {
                    "name": "synaptonemal complex central element protein 1",
                    "type": "synonym"
                },
                {
                    "name": "telomeric protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syce1",
                    "type": "recommended"
                },
                {
                    "name": "Syce1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XHZ2-1",
            "evidence": [
                {
                    "id": "0080869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080869"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080869"
}