{
    "disease_id": "DOID:0080871",
    "recommended_name": {
        "id": "DOID:0080871",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080871",
        "name": "primary ovarian insufficiency 14",
        "description": "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0044777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044777",
            "name": "premature ovarian failure 14",
            "description": ""
        },
        {
            "id": "MONDO:0044777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044777",
            "name": "premature ovarian failure 14",
            "description": ""
        },
        {
            "id": "MONDO:0044777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044777",
            "name": "GDF9-related primary ovarian insufficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044777",
            "name": "POF14",
            "description": ""
        },
        {
            "id": "MIM:618014",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618014",
            "name": "Premature ovarian failure 14",
            "description": "Premature ovarian failure 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080871"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080871",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080871",
            "categories": []
        },
        {
            "id": "MONDO:0044777",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044777",
            "categories": []
        },
        {
            "id": "MIM:618014",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618014",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q07105-1",
            "uniprot_ac": "Q07105",
            "uniprot_id": "GDF9_MOUSE",
            "refseq_ac": "NP_032136",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 9",
                    "type": "recommended"
                },
                {
                    "name": "GDF-9",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 9 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf9",
                    "type": "recommended"
                },
                {
                    "name": "Gdf-9",
                    "type": "synonym"
                },
                {
                    "name": "Gdf9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07105-1",
            "evidence": [
                {
                    "id": "0080871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60383-1",
            "uniprot_ac": "O60383",
            "uniprot_id": "GDF9_HUMAN",
            "refseq_ac": "NP_001275753",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 9",
                    "type": "recommended"
                },
                {
                    "name": "GDF-9",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 9 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDF9",
                    "type": "recommended"
                },
                {
                    "name": "GDF9",
                    "type": "synonym"
                },
                {
                    "name": "POF14",
                    "type": "synonym"
                }
            ],
            "record_id": "O60383-1",
            "evidence": [
                {
                    "id": "618014",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618014"
                },
                {
                    "id": "0080871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080871"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYW4-1",
            "uniprot_ac": "Q9QYW4",
            "uniprot_id": "Q9QYW4_RAT",
            "refseq_ac": "NP_067704",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 9",
                    "type": "recommended"
                },
                {
                    "name": "growth/differentiation factor 9 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf9",
                    "type": "recommended"
                },
                {
                    "name": "Gdf9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYW4-1",
            "evidence": [
                {
                    "id": "0080871",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080871"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080871"
}