{
    "disease_id": "DOID:0080857",
    "recommended_name": {
        "id": "DOID:0080857",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080857",
        "name": "primary ovarian insufficiency 1",
        "description": "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28)."
    },
    "synonyms": [
        {
            "id": "DOID:0080857",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080857",
            "name": "FMR1-related primary ovarian insufficiency",
            "description": ""
        },
        {
            "id": "DOID:0080857",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080857",
            "name": "Fragile X-associated primary ovarian insufficiency",
            "description": ""
        },
        {
            "id": "DOID:0080857",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080857",
            "name": "premature ovarian failure 1",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "premature ovarian failure 1",
            "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene."
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "ovarian failure, premature",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "FMR1 primary ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "fragile x-associated primary ovarian insufficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "premature ovarian failure 1",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "premature ovarian failure type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "primary ovarian failure caused by mutation in FMR1",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "FMR1-related premature ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "FMR1-related primary ovarian insufficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "Pof1",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "familial premature ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "fragile X-associated primary ovarian insufficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "name": "idiopathic familial premature ovarian failure",
            "description": ""
        },
        {
            "id": "MIM:311360",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/311360",
            "name": "Premature ovarian failure 1",
            "description": "Premature ovarian failure 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080857"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080857",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080857",
            "categories": []
        },
        {
            "id": "MONDO:0010706",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010706",
            "categories": []
        },
        {
            "id": "MIM:311360",
            "database": "MIM",
            "url": "https://www.omim.org/entry/311360",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35922-1",
            "uniprot_ac": "P35922",
            "uniprot_id": "FMR1_MOUSE",
            "refseq_ac": "NP_032057",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fragile X messenger ribonucleoprotein 1",
                    "type": "recommended"
                },
                {
                    "name": "FMRP translational regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "FMRP",
                    "type": "synonym"
                },
                {
                    "name": "Fragile X messenger ribonucleoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Protein FMR-1",
                    "type": "synonym"
                },
                {
                    "name": "fragile X messenger ribonucleoprotein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mFmr1p",
                    "type": "synonym"
                },
                {
                    "name": "synaptic functional regulator FMR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fmr1",
                    "type": "recommended"
                },
                {
                    "name": "FMRP",
                    "type": "synonym"
                },
                {
                    "name": "Fmr-1",
                    "type": "synonym"
                },
                {
                    "name": "Fmr1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35922-1",
            "evidence": [
                {
                    "id": "0080857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06787-1",
            "uniprot_ac": "Q06787",
            "uniprot_id": "FMR1_HUMAN",
            "refseq_ac": "NP_001172004",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fragile X messenger ribonucleoprotein 1",
                    "type": "recommended"
                },
                {
                    "name": "FMRP translational regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "FMRP",
                    "type": "synonym"
                },
                {
                    "name": "Fragile X messenger ribonucleoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Protein FMR-1",
                    "type": "synonym"
                },
                {
                    "name": "fragile X messenger ribonucleoprotein 1 isoform ISO6",
                    "type": "synonym"
                },
                {
                    "name": "synaptic functional regulator FMR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FMR1",
                    "type": "recommended"
                },
                {
                    "name": "FMR1",
                    "type": "synonym"
                },
                {
                    "name": "FMRP",
                    "type": "synonym"
                },
                {
                    "name": "FRAXA",
                    "type": "synonym"
                },
                {
                    "name": "POF1",
                    "type": "synonym"
                },
                {
                    "name": "POFX",
                    "type": "synonym"
                },
                {
                    "name": "POF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06787-1",
            "evidence": [
                {
                    "id": "311360",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/311360"
                },
                {
                    "id": "0080857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80WE1-1",
            "uniprot_ac": "Q80WE1",
            "uniprot_id": "FMR1_RAT",
            "refseq_ac": "NP_434691",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fragile X messenger ribonucleoprotein 1",
                    "type": "recommended"
                },
                {
                    "name": "FMRP translational regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "FMRP",
                    "type": "synonym"
                },
                {
                    "name": "Fragile X messenger ribonucleoprotein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X messenger ribonucleoprotein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein FMR-1",
                    "type": "synonym"
                },
                {
                    "name": "synaptic functional regulator FMR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fmr1",
                    "type": "recommended"
                },
                {
                    "name": "FMRP",
                    "type": "synonym"
                },
                {
                    "name": "Fmr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80WE1-1",
            "evidence": [
                {
                    "id": "0080857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35162-1",
            "uniprot_ac": "O35162",
            "uniprot_id": "HSP13_RAT",
            "refseq_ac": "NP_062144",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock 70 kDa protein 13",
                    "type": "recommended"
                },
                {
                    "name": "Microsomal stress-70 protein ATPase core",
                    "type": "synonym"
                },
                {
                    "name": "Stress-70 protein chaperone microsome-associated 60 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70 kDa protein 13 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70 kDa protein 13",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 13",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 70 family, member 13",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 70kDa family, member 13",
                    "type": "synonym"
                },
                {
                    "name": "microsomal stress-70 protein ATPase core",
                    "type": "synonym"
                },
                {
                    "name": "stress 70 protein chaperone, microsome-associated, 60kD human homolog",
                    "type": "synonym"
                },
                {
                    "name": "stress 70 protein chaperone, microsome-associated, human homolog",
                    "type": "synonym"
                },
                {
                    "name": "stress-70 protein chaperone microsome-associated 60 kDa protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspa13",
                    "type": "recommended"
                },
                {
                    "name": "Hspa13",
                    "type": "synonym"
                },
                {
                    "name": "Stch",
                    "type": "synonym"
                }
            ],
            "record_id": "O35162-1",
            "evidence": [
                {
                    "id": "0080857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NFU0-1",
            "uniprot_ac": "Q9NFU0",
            "uniprot_id": "FMR1_DROME",
            "refseq_ac": "NP_001303443",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fragile X messenger ribonucleoprotein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG6203-PJ",
                    "type": "synonym"
                },
                {
                    "name": "FMRP",
                    "type": "synonym"
                },
                {
                    "name": "Fmr1-PJ",
                    "type": "synonym"
                },
                {
                    "name": "Fragile-X mental retardation 1",
                    "type": "synonym"
                },
                {
                    "name": "Fragile-X mental retardation protein",
                    "type": "synonym"
                },
                {
                    "name": "Fragile-X-related",
                    "type": "synonym"
                },
                {
                    "name": "cg 6203 gene product from transcript cg6203-rc",
                    "type": "synonym"
                },
                {
                    "name": "dFMR1",
                    "type": "synonym"
                },
                {
                    "name": "dFMR",
                    "type": "synonym"
                },
                {
                    "name": "dFmr1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila fragile X mental retardation protein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation 1",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation gene",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation protein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X mental retardation related 1",
                    "type": "synonym"
                },
                {
                    "name": "fragile X messenger ribonucleoprotein 1, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "fragile X protein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X related protein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X retardation 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "fragile X-related",
                    "type": "synonym"
                },
                {
                    "name": "fragile x related",
                    "type": "synonym"
                },
                {
                    "name": "fragile-X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fmr1",
                    "type": "recommended"
                },
                {
                    "name": "AT24755",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GM08679",
                    "type": "synonym"
                },
                {
                    "name": "CG6203",
                    "type": "synonym"
                },
                {
                    "name": "DFMRP",
                    "type": "synonym"
                },
                {
                    "name": "DFmr1",
                    "type": "synonym"
                },
                {
                    "name": "Dfmr",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6203",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6203",
                    "type": "synonym"
                },
                {
                    "name": "EP(3)3517",
                    "type": "synonym"
                },
                {
                    "name": "FMR1",
                    "type": "synonym"
                },
                {
                    "name": "FMRP",
                    "type": "synonym"
                },
                {
                    "name": "FMRp",
                    "type": "synonym"
                },
                {
                    "name": "FMR",
                    "type": "synonym"
                },
                {
                    "name": "FXR",
                    "type": "synonym"
                },
                {
                    "name": "Fmr1",
                    "type": "synonym"
                },
                {
                    "name": "Fmrp",
                    "type": "synonym"
                },
                {
                    "name": "cg6203",
                    "type": "synonym"
                },
                {
                    "name": "dFMR1",
                    "type": "synonym"
                },
                {
                    "name": "dFMRP",
                    "type": "synonym"
                },
                {
                    "name": "dFMR",
                    "type": "synonym"
                },
                {
                    "name": "dFXR1",
                    "type": "synonym"
                },
                {
                    "name": "dFXRP",
                    "type": "synonym"
                },
                {
                    "name": "dFXR",
                    "type": "synonym"
                },
                {
                    "name": "dFmr1",
                    "type": "synonym"
                },
                {
                    "name": "dFmrp",
                    "type": "synonym"
                },
                {
                    "name": "dfmr1",
                    "type": "synonym"
                },
                {
                    "name": "dfmr",
                    "type": "synonym"
                },
                {
                    "name": "dfxr1",
                    "type": "synonym"
                },
                {
                    "name": "dfxr",
                    "type": "synonym"
                },
                {
                    "name": "dmfr1",
                    "type": "synonym"
                },
                {
                    "name": "fmr1",
                    "type": "synonym"
                },
                {
                    "name": "fmr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NFU0-1",
            "evidence": [
                {
                    "id": "0080857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080857"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11712-1",
            "uniprot_ac": "P11712",
            "uniprot_id": "CP2C9_HUMAN",
            "refseq_ac": "NP_000762",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2C9",
                    "type": "recommended"
                },
                {
                    "name": "(R)-limonene 6-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "(S)-limonene 6-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "(S)-limonene 7-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.1",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.51",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.52",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.53",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIC9",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol 25-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P-450MP",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 MP-4",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 MP-8",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 PB-1",
                    "type": "synonym"
                },
                {
                    "name": "S-mephenytoin 4-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P-450 S-mephenytoin 4-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P-450MP",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2C9",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 PB-1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 2, subfamily C, polypeptide 9",
                    "type": "synonym"
                },
                {
                    "name": "flavoprotein-linked monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "microsomal monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "xenobiotic monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP2C9",
                    "type": "recommended"
                },
                {
                    "name": "CPC9",
                    "type": "synonym"
                },
                {
                    "name": "CYP2C10",
                    "type": "synonym"
                },
                {
                    "name": "CYP2C9",
                    "type": "synonym"
                },
                {
                    "name": "CYP2C",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIC9",
                    "type": "synonym"
                },
                {
                    "name": "P450-2C9",
                    "type": "synonym"
                },
                {
                    "name": "P450IIC9",
                    "type": "synonym"
                }
            ],
            "record_id": "P11712-1",
            "evidence": [
                {
                    "id": "0080857",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080857"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080857"
}