{
    "disease_id": "DOID:0080862",
    "recommended_name": {
        "id": "DOID:0080862",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080862",
        "name": "primary ovarian insufficiency 5",
        "description": "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0012689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012689",
            "name": "premature ovarian failure 5",
            "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene."
        },
        {
            "id": "MONDO:0012689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012689",
            "name": "NOBOX primary ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0012689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012689",
            "name": "premature ovarian failure 5",
            "description": ""
        },
        {
            "id": "MONDO:0012689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012689",
            "name": "premature ovarian failure type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012689",
            "name": "primary ovarian failure caused by mutation in NOBOX",
            "description": ""
        },
        {
            "id": "MONDO:0012689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012689",
            "name": "Pof5",
            "description": ""
        },
        {
            "id": "MIM:611548",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611548",
            "name": "Premature ovarian failure 5",
            "description": "Premature ovarian failure 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080862"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080862",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080862",
            "categories": []
        },
        {
            "id": "MONDO:0012689",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012689",
            "categories": []
        },
        {
            "id": "MIM:611548",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611548",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VIH1-1",
            "uniprot_ac": "Q8VIH1",
            "uniprot_id": "NOBOX_MOUSE",
            "refseq_ac": "NP_570939",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein NOBOX",
                    "type": "recommended"
                },
                {
                    "name": "Homeodomain-containing protein OG-2",
                    "type": "synonym"
                },
                {
                    "name": "Newborn ovary homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "OG2 homeobox",
                    "type": "synonym"
                },
                {
                    "name": "Oocyte-specific homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NOBOX",
                    "type": "synonym"
                },
                {
                    "name": "homeodomain-containing protein OG-2",
                    "type": "synonym"
                },
                {
                    "name": "newborn ovary homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "oocyte-specific homeobox protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nobox",
                    "type": "recommended"
                },
                {
                    "name": "Nobox",
                    "type": "synonym"
                },
                {
                    "name": "OG2",
                    "type": "synonym"
                },
                {
                    "name": "Og2x",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VIH1-1",
            "evidence": [
                {
                    "id": "0080862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080862"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60393-1",
            "uniprot_ac": "O60393",
            "uniprot_id": "NOBOX_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein NOBOX",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "NOBOX",
                    "type": "recommended"
                }
            ],
            "record_id": "O60393-1",
            "evidence": [
                {
                    "id": "611548",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611548"
                },
                {
                    "id": "0080862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080862"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZXL8-1",
            "uniprot_ac": "D3ZXL8",
            "uniprot_id": "D3ZXL8_RAT",
            "refseq_ac": "NP_001178942",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NOBOX oogenesis homeobox",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein NOBOX",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nobox",
                    "type": "recommended"
                },
                {
                    "name": "Nobox",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563929",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZXL8-1",
            "evidence": [
                {
                    "id": "0080862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080862"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080862"
}
