{
    "disease_id": "DOID:0080493",
    "recommended_name": {
        "id": "DOID:0080493",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080493",
        "name": "ovarian dysgenesis 1",
        "description": "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16."
    },
    "synonyms": [
        {
            "id": "MONDO:0024463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024463",
            "name": "ovarian dysgenesis 1",
            "description": ""
        },
        {
            "id": "MONDO:0024463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024463",
            "name": "ODG1",
            "description": ""
        },
        {
            "id": "MONDO:0024463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024463",
            "name": "ovarian dysgenesis 1",
            "description": ""
        },
        {
            "id": "MONDO:0024463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024463",
            "name": "XXGD",
            "description": ""
        },
        {
            "id": "MIM:233300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/233300",
            "name": "Ovarian dysgenesis 1",
            "description": "Ovarian dysgenesis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080493"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080493",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080493",
            "categories": []
        },
        {
            "id": "MONDO:0024463",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024463",
            "categories": []
        },
        {
            "id": "MIM:233300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/233300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35378-1",
            "uniprot_ac": "P35378",
            "uniprot_id": "FSHR_MOUSE",
            "refseq_ac": "NP_038551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Follicle-stimulating hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "FSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Follitropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "follicle-stimulating hormone receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "follitropin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fshr",
                    "type": "recommended"
                },
                {
                    "name": "Fshr",
                    "type": "synonym"
                }
            ],
            "record_id": "P35378-1",
            "evidence": [
                {
                    "id": "0080493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23945-1",
            "uniprot_ac": "P23945",
            "uniprot_id": "FSHR_HUMAN",
            "refseq_ac": "NP_000136",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Follicle-stimulating hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "FSH receptor",
                    "type": "synonym"
                },
                {
                    "name": "FSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Follitropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "follicle-stimulating hormone receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "follitropin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FSHR",
                    "type": "recommended"
                },
                {
                    "name": "FSHR1",
                    "type": "synonym"
                },
                {
                    "name": "FSHRO",
                    "type": "synonym"
                },
                {
                    "name": "FSHR",
                    "type": "synonym"
                },
                {
                    "name": "LGR1",
                    "type": "synonym"
                },
                {
                    "name": "ODG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P23945-1",
            "evidence": [
                {
                    "id": "233300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/233300"
                },
                {
                    "id": "0080493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20395-1",
            "uniprot_ac": "P20395",
            "uniprot_id": "FSHR_RAT",
            "refseq_ac": "NP_954707",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Follicle-stimulating hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "FSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Follitropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "follicle-stimulating hormone receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "follitropin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fshr",
                    "type": "recommended"
                },
                {
                    "name": "Fshr",
                    "type": "synonym"
                }
            ],
            "record_id": "P20395-1",
            "evidence": [
                {
                    "id": "0080493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEG4-1",
            "uniprot_ac": "Q9VEG4",
            "uniprot_id": "Q9VEG4_DROME",
            "refseq_ac": "NP_524393",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7665-PA",
                    "type": "synonym"
                },
                {
                    "name": "Fsh-Tsh-like receptor",
                    "type": "synonym"
                },
                {
                    "name": "Leu-rich repeats-containing G protein-coupled receptor",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing G protein-coupled receptor 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing G protein-coupled receptor 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Lgr1-PA",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein A2/Glycoprotein B5 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lgr1",
                    "type": "recommended"
                },
                {
                    "name": "CG receptor",
                    "type": "synonym"
                },
                {
                    "name": "CG7665",
                    "type": "synonym"
                },
                {
                    "name": "DLGR-1",
                    "type": "synonym"
                },
                {
                    "name": "DLGR1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7665",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7665",
                    "type": "synonym"
                },
                {
                    "name": "FSH-TSH",
                    "type": "synonym"
                },
                {
                    "name": "FSH",
                    "type": "synonym"
                },
                {
                    "name": "Fsh R",
                    "type": "synonym"
                },
                {
                    "name": "Fsh/CG7665",
                    "type": "synonym"
                },
                {
                    "name": "Fsh",
                    "type": "synonym"
                },
                {
                    "name": "LGR1",
                    "type": "synonym"
                },
                {
                    "name": "LH/CG receptor",
                    "type": "synonym"
                },
                {
                    "name": "Lgr1",
                    "type": "synonym"
                },
                {
                    "name": "RH44949p",
                    "type": "synonym"
                },
                {
                    "name": "TSH",
                    "type": "synonym"
                },
                {
                    "name": "dLGR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEG4-1",
            "evidence": [
                {
                    "id": "0080493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24903-1",
            "uniprot_ac": "P24903",
            "uniprot_id": "CP2F1_HUMAN",
            "refseq_ac": "NP_000765",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2F1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.1",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIF1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2F1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 2, subfamily F, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily IIF, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "flavoprotein-linked monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "microsomal monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "xenobiotic monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP2F1",
                    "type": "recommended"
                },
                {
                    "name": "C2F1",
                    "type": "synonym"
                },
                {
                    "name": "CYP2F1",
                    "type": "synonym"
                },
                {
                    "name": "CYP2F",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P24903-1",
            "evidence": [
                {
                    "id": "0080493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080493"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080493"
}