{
    "disease_id": "DOID:0080867",
    "recommended_name": {
        "id": "DOID:0080867",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080867",
        "name": "primary ovarian insufficiency 10",
        "description": "A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p."
    },
    "synonyms": [
        {
            "id": "MONDO:0044776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044776",
            "name": "premature ovarian failure 10",
            "description": "Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488)."
        },
        {
            "id": "MONDO:0044776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044776",
            "name": "premature ovarian failure 10",
            "description": ""
        },
        {
            "id": "MIM:612885",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612885",
            "name": "Premature ovarian failure 10",
            "description": "Premature ovarian failure 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080867"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080867",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080867",
            "categories": []
        },
        {
            "id": "MONDO:0044776",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044776",
            "categories": []
        },
        {
            "id": "MIM:612885",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612885",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F643-1",
            "uniprot_ac": "E7F643",
            "uniprot_id": "E7F643_DANRE",
            "refseq_ac": "XP_002665161",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA helicase MCM8",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase MCM8",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase MCM8 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Minichromosome maintenance 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mcm8",
                    "type": "recommended"
                },
                {
                    "name": "mcm8",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F643-1",
            "evidence": [
                {
                    "id": "0080867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CWV1-1",
            "uniprot_ac": "Q9CWV1",
            "uniprot_id": "MCM8_MOUSE",
            "refseq_ac": "NP_001277983",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA helicase MCM8",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase MCM8",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase MCM8 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase MCM8",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM8",
                    "type": "synonym"
                },
                {
                    "name": "Minichromosome maintenance 8",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm8",
                    "type": "recommended"
                },
                {
                    "name": "5730432L01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mcm8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CWV1-1",
            "evidence": [
                {
                    "id": "0080867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UJA3-1",
            "uniprot_ac": "Q9UJA3",
            "uniprot_id": "MCM8_HUMAN",
            "refseq_ac": "NP_001268449",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA helicase MCM8",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase MCM8",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase MCM8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase MCM8",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM8",
                    "type": "synonym"
                },
                {
                    "name": "MCM8 minichromosome maintenance deficient 8",
                    "type": "synonym"
                },
                {
                    "name": "Minichromosome maintenance 8",
                    "type": "synonym"
                },
                {
                    "name": "REC homolog",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance complex component 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCM8",
                    "type": "recommended"
                },
                {
                    "name": "C20orf154",
                    "type": "synonym"
                },
                {
                    "name": "MCM8",
                    "type": "synonym"
                },
                {
                    "name": "POF10",
                    "type": "synonym"
                },
                {
                    "name": "dJ967N21.5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJA3-1",
            "evidence": [
                {
                    "id": "612885",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612885"
                },
                {
                    "id": "0080867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZVK1-1",
            "uniprot_ac": "D3ZVK1",
            "uniprot_id": "MCM8_RAT",
            "refseq_ac": "NP_001099984",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA helicase MCM8",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase MCM8",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase MCM8 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase MCM8",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM8",
                    "type": "synonym"
                },
                {
                    "name": "Minichromosome maintenance 8",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance complex component 8",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm8",
                    "type": "recommended"
                },
                {
                    "name": "Mcm8",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZVK1-1",
            "evidence": [
                {
                    "id": "0080867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF30-1",
            "uniprot_ac": "Q9VF30",
            "uniprot_id": "MCMR_DROME",
            "refseq_ac": "NP_001262615",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor REC",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "CG31293-PB",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase MCM8",
                    "type": "synonym"
                },
                {
                    "name": "Probable DNA 3'-5' helicase REC/MCM8",
                    "type": "synonym"
                },
                {
                    "name": "Protein mini chromosome maintenance-related",
                    "type": "synonym"
                },
                {
                    "name": "Protein recombination-defective",
                    "type": "synonym"
                },
                {
                    "name": "mini-chromosome maintenance 8",
                    "type": "synonym"
                },
                {
                    "name": "rec-PB",
                    "type": "synonym"
                },
                {
                    "name": "recombination defective",
                    "type": "synonym"
                },
                {
                    "name": "recombination-defective, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rec",
                    "type": "recommended"
                },
                {
                    "name": "CG14875",
                    "type": "synonym"
                },
                {
                    "name": "CG31293",
                    "type": "synonym"
                },
                {
                    "name": "CG4828",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31293",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31293",
                    "type": "synonym"
                },
                {
                    "name": "MCM8",
                    "type": "synonym"
                },
                {
                    "name": "Rec",
                    "type": "synonym"
                },
                {
                    "name": "rec-1",
                    "type": "synonym"
                },
                {
                    "name": "rec1",
                    "type": "synonym"
                },
                {
                    "name": "rec",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF30-1",
            "evidence": [
                {
                    "id": "0080867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080867"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080867"
}