{
    "disease_id": "DOID:0080863",
    "recommended_name": {
        "id": "DOID:0080863",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080863",
        "name": "primary ovarian insufficiency 6",
        "description": "A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0012861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012861",
            "name": "premature ovarian failure 6",
            "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene."
        },
        {
            "id": "MONDO:0012861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012861",
            "name": "FIGLA primary ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0012861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012861",
            "name": "premature ovarian failure 6",
            "description": ""
        },
        {
            "id": "MONDO:0012861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012861",
            "name": "premature ovarian failure type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012861",
            "name": "primary ovarian failure caused by mutation in FIGLA",
            "description": ""
        },
        {
            "id": "MONDO:0012861",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012861",
            "name": "Pof6",
            "description": ""
        },
        {
            "id": "MIM:612310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612310",
            "name": "Premature ovarian failure 6",
            "description": "Premature ovarian failure 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080863"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080863",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080863",
            "categories": []
        },
        {
            "id": "MONDO:0012861",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012861",
            "categories": []
        },
        {
            "id": "MIM:612310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O55208-1",
            "uniprot_ac": "O55208",
            "uniprot_id": "FIGLA_MOUSE",
            "refseq_ac": "NP_036143",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Factor in the germline alpha",
                    "type": "recommended"
                },
                {
                    "name": "FIG alpha",
                    "type": "synonym"
                },
                {
                    "name": "FIGalpha",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor FIGa",
                    "type": "synonym"
                },
                {
                    "name": "factor in the germline alpha",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor FIGa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Figla",
                    "type": "recommended"
                },
                {
                    "name": "FIGalpha",
                    "type": "synonym"
                },
                {
                    "name": "Figla",
                    "type": "synonym"
                },
                {
                    "name": "bHLHc8",
                    "type": "synonym"
                }
            ],
            "record_id": "O55208-1",
            "evidence": [
                {
                    "id": "0080863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6QHK4-1",
            "uniprot_ac": "Q6QHK4",
            "uniprot_id": "FIGLA_HUMAN",
            "refseq_ac": "NP_001004311",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Factor in the germline alpha",
                    "type": "recommended"
                },
                {
                    "name": "Class C basic helix-loop-helix protein 8",
                    "type": "synonym"
                },
                {
                    "name": "FIGalpha",
                    "type": "synonym"
                },
                {
                    "name": "Folliculogenesis-specific basic helix-loop-helix protein",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor FIGa",
                    "type": "synonym"
                },
                {
                    "name": "bHLHc8",
                    "type": "synonym"
                },
                {
                    "name": "class C basic helix-loop-helix protein 8",
                    "type": "synonym"
                },
                {
                    "name": "factor in the germline alpha",
                    "type": "synonym"
                },
                {
                    "name": "folliculogenesis-specific basic helix-loop-helix protein",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor FIGa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FIGLA",
                    "type": "recommended"
                },
                {
                    "name": "BHLHC8",
                    "type": "synonym"
                },
                {
                    "name": "FIGALPHA",
                    "type": "synonym"
                },
                {
                    "name": "FIGLA",
                    "type": "synonym"
                },
                {
                    "name": "POF6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6QHK4-1",
            "evidence": [
                {
                    "id": "612310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612310"
                },
                {
                    "id": "0080863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080863"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AD65-1",
            "uniprot_ac": "D4AD65",
            "uniprot_id": "D4AD65_RAT",
            "refseq_ac": "XP_575589",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Factor in the germline alpha",
                    "type": "recommended"
                },
                {
                    "name": "Transcription factor FIGa",
                    "type": "synonym"
                },
                {
                    "name": "factor in the germline alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Figla",
                    "type": "recommended"
                },
                {
                    "name": "Figla",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AD65-1",
            "evidence": [
                {
                    "id": "0080863",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080863"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080863"
}
