{
    "disease_id": "DOID:0080873",
    "recommended_name": {
        "id": "DOID:0080873",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080873",
        "name": "primary ovarian insufficiency 16",
        "description": "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0032881",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032881",
            "name": "premature ovarian failure 16",
            "description": ""
        },
        {
            "id": "MONDO:0032881",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032881",
            "name": "POF16",
            "description": ""
        },
        {
            "id": "MIM:618723",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618723",
            "name": "Premature ovarian failure 16",
            "description": "Premature ovarian failure 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080873"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080873",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080873",
            "categories": []
        },
        {
            "id": "MONDO:0032881",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032881",
            "categories": []
        },
        {
            "id": "MIM:618723",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618723",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0G2KIM8-1",
            "uniprot_ac": "A0A0G2KIM8",
            "uniprot_id": "A0A0G2KIM8_DANRE",
            "refseq_ac": "XP_009299269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein basonuclin-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein basonuclin-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bnc1",
                    "type": "recommended"
                },
                {
                    "name": "bnc1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KIM8-1",
            "evidence": [
                {
                    "id": "0080873",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080873"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35914-1",
            "uniprot_ac": "O35914",
            "uniprot_id": "BNC1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein basonuclin-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Bnc1",
                    "type": "recommended"
                },
                {
                    "name": "Bnc",
                    "type": "synonym"
                }
            ],
            "record_id": "O35914-1",
            "evidence": [
                {
                    "id": "0080873",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080873"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01954-1",
            "uniprot_ac": "Q01954",
            "uniprot_id": "BNC1_HUMAN",
            "refseq_ac": "NP_001288135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein basonuclin-1",
                    "type": "recommended"
                },
                {
                    "name": "basonuclin 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein basonuclin-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein basonuclin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BNC1",
                    "type": "recommended"
                },
                {
                    "name": "BNC1",
                    "type": "synonym"
                },
                {
                    "name": "BNC",
                    "type": "synonym"
                },
                {
                    "name": "BSN1",
                    "type": "synonym"
                },
                {
                    "name": "HsT19447",
                    "type": "synonym"
                },
                {
                    "name": "POF16",
                    "type": "synonym"
                },
                {
                    "name": "bn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01954-1",
            "evidence": [
                {
                    "id": "618723",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618723"
                },
                {
                    "id": "0080873",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080873"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LUF8-1",
            "uniprot_ac": "F1LUF8",
            "uniprot_id": "F1LUF8_RAT",
            "refseq_ac": "NP_001102386",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein basonuclin-1",
                    "type": "recommended"
                },
                {
                    "name": "basonuclin 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein basonuclin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bnc1",
                    "type": "recommended"
                },
                {
                    "name": "Bnc1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LUF8-1",
            "evidence": [
                {
                    "id": "0080873",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080873"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23792-1",
            "uniprot_ac": "P23792",
            "uniprot_id": "DISC_DROME",
            "refseq_ac": "NP_001033847",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein disconnected",
                    "type": "recommended"
                },
                {
                    "name": "CG9908-PB",
                    "type": "synonym"
                },
                {
                    "name": "disco-PB",
                    "type": "synonym"
                },
                {
                    "name": "disconnected, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "disconnected",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "disco",
                    "type": "recommended"
                },
                {
                    "name": "CG9908",
                    "type": "synonym"
                },
                {
                    "name": "DISCO",
                    "type": "synonym"
                },
                {
                    "name": "Disco",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9908",
                    "type": "synonym"
                },
                {
                    "name": "disco",
                    "type": "synonym"
                },
                {
                    "name": "disc",
                    "type": "synonym"
                }
            ],
            "record_id": "P23792-1",
            "evidence": [
                {
                    "id": "0080873",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080873"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXJ5-1",
            "uniprot_ac": "Q9VXJ5",
            "uniprot_id": "Q9VXJ5_DROME",
            "refseq_ac": "NP_001259598",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32577-PB",
                    "type": "synonym"
                },
                {
                    "name": "Disco-related, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Disco-related, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Disco-related, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Disco-related, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "baetone",
                    "type": "synonym"
                },
                {
                    "name": "batone",
                    "type": "synonym"
                },
                {
                    "name": "disco-r-PB",
                    "type": "synonym"
                },
                {
                    "name": "disco-related, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "disconnected-related",
                    "type": "synonym"
                },
                {
                    "name": "discorelated",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "disco-r",
                    "type": "recommended"
                },
                {
                    "name": "CG32577",
                    "type": "synonym"
                },
                {
                    "name": "CG9219",
                    "type": "synonym"
                },
                {
                    "name": "CG9223",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32577",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32577",
                    "type": "synonym"
                },
                {
                    "name": "bae",
                    "type": "synonym"
                },
                {
                    "name": "disco-r",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXJ5-1",
            "evidence": [
                {
                    "id": "0080873",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080873"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080873"
}
