{
    "disease_id": "DOID:0080866",
    "recommended_name": {
        "id": "DOID:0080866",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080866",
        "name": "primary ovarian insufficiency 9",
        "description": "A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0014322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014322",
            "name": "premature ovarian failure 9",
            "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene."
        },
        {
            "id": "MONDO:0014322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014322",
            "name": "HFM1 primary ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0014322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014322",
            "name": "premature ovarian failure 9",
            "description": ""
        },
        {
            "id": "MONDO:0014322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014322",
            "name": "premature ovarian failure type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014322",
            "name": "primary ovarian failure caused by mutation in HFM1",
            "description": ""
        },
        {
            "id": "MONDO:0014322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014322",
            "name": "Pof9",
            "description": ""
        },
        {
            "id": "MIM:615724",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615724",
            "name": "Premature ovarian failure 9",
            "description": "Premature ovarian failure 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080866"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080866",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080866",
            "categories": []
        },
        {
            "id": "MONDO:0014322",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014322",
            "categories": []
        },
        {
            "id": "MIM:615724",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615724",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P056-1",
            "uniprot_ac": "A0A8M9P056",
            "uniprot_id": "A0A8M9P056_DANRE",
            "refseq_ac": "NP_001429764",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ATP-dependent DNA helicase HFM1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase HFM1",
                    "type": "synonym"
                },
                {
                    "name": "HFM1, ATP-dependent DNA helicase homolog",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent DNA helicase HFM1 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hfm1",
                    "type": "recommended"
                },
                {
                    "name": "hfm1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-83f14.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P056-1",
            "evidence": [
                {
                    "id": "0080866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z4R1-1",
            "uniprot_ac": "D3Z4R1",
            "uniprot_id": "HFM1_MOUSE",
            "refseq_ac": "NP_808541",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ATP-dependent DNA helicase HFM1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase HFM1",
                    "type": "synonym"
                },
                {
                    "name": "SEC63 domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent DNA helicase HFM1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent DNA helicase HFM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hfm1",
                    "type": "recommended"
                },
                {
                    "name": "A330009G12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm1046",
                    "type": "synonym"
                },
                {
                    "name": "Hfm1",
                    "type": "synonym"
                },
                {
                    "name": "Mer3",
                    "type": "synonym"
                },
                {
                    "name": "Sec63d1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z4R1-1",
            "evidence": [
                {
                    "id": "0080866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2PYH4-1",
            "uniprot_ac": "A2PYH4",
            "uniprot_id": "HFM1_HUMAN",
            "refseq_ac": "NP_001017975",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ATP-dependent DNA helicase HFM1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase HFM1",
                    "type": "synonym"
                },
                {
                    "name": "HFM1, ATP dependent DNA helicase homolog",
                    "type": "synonym"
                },
                {
                    "name": "SEC63 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "helicase-like protein HFM1",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent DNA helicase HFM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HFM1",
                    "type": "recommended"
                },
                {
                    "name": "HFM1",
                    "type": "synonym"
                },
                {
                    "name": "MER3",
                    "type": "synonym"
                },
                {
                    "name": "POF9",
                    "type": "synonym"
                },
                {
                    "name": "SEC3D1",
                    "type": "synonym"
                },
                {
                    "name": "SEC63D1",
                    "type": "synonym"
                },
                {
                    "name": "Si-11-6",
                    "type": "synonym"
                },
                {
                    "name": "Si-11",
                    "type": "synonym"
                },
                {
                    "name": "helicase",
                    "type": "synonym"
                }
            ],
            "record_id": "A2PYH4-1",
            "evidence": [
                {
                    "id": "615724",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615724"
                },
                {
                    "id": "0080866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51979-1",
            "uniprot_ac": "P51979",
            "uniprot_id": "HFM1_YEAST",
            "refseq_ac": "NP_011263",
            "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": "ATP-dependent DNA helicase MER3",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase MER3",
                    "type": "synonym"
                },
                {
                    "name": "DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "Protein HFM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HFM1",
                    "type": "recommended"
                },
                {
                    "name": "HFM1",
                    "type": "synonym"
                },
                {
                    "name": "MER3",
                    "type": "synonym"
                },
                {
                    "name": "NRE1046",
                    "type": "synonym"
                }
            ],
            "record_id": "P51979-1",
            "evidence": [
                {
                    "id": "0080866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LRX5-1",
            "uniprot_ac": "A0ABK0LRX5",
            "uniprot_id": "A0ABK0LRX5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ATP-dependent DNA helicase HFM1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase HFM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hfm1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LRX5-1",
            "evidence": [
                {
                    "id": "0080866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080866"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080866"
}