{
    "disease_id": "DOID:0080858",
    "recommended_name": {
        "id": "DOID:0080858",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080858",
        "name": "primary ovarian insufficiency 2A",
        "description": "A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22."
    },
    "synonyms": [
        {
            "id": "MONDO:0010350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010350",
            "name": "premature ovarian failure 2A",
            "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene."
        },
        {
            "id": "MONDO:0010350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010350",
            "name": "DIAPH2 primary ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0010350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010350",
            "name": "premature ovarian failure 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010350",
            "name": "premature ovarian failure 2A, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010350",
            "name": "premature ovarian failure type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010350",
            "name": "primary ovarian failure caused by mutation in DIAPH2",
            "description": ""
        },
        {
            "id": "MONDO:0010350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010350",
            "name": "POF2A",
            "description": ""
        },
        {
            "id": "MIM:300511",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300511",
            "name": "Premature ovarian failure 2A",
            "description": "Premature ovarian failure 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080858"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080858",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080858",
            "categories": []
        },
        {
            "id": "MONDO:0010350",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010350",
            "categories": []
        },
        {
            "id": "MIM:300511",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300511",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PZW8-1",
            "uniprot_ac": "A0A8M9PZW8",
            "uniprot_id": "A0A8M9PZW8_DANRE",
            "refseq_ac": "XP_021336921",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein diaphanous homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Diaphanous-related formin-2",
                    "type": "synonym"
                },
                {
                    "name": "protein diaphanous homolog 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "diaph2",
                    "type": "recommended"
                },
                {
                    "name": "diaph2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PZW8-1",
            "evidence": [
                {
                    "id": "0080858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70566-1",
            "uniprot_ac": "O70566",
            "uniprot_id": "DIAP2_MOUSE",
            "refseq_ac": "XP_006528645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein diaphanous homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "DRF2",
                    "type": "synonym"
                },
                {
                    "name": "Diaphanous-related formin-2",
                    "type": "synonym"
                },
                {
                    "name": "mDia3",
                    "type": "synonym"
                },
                {
                    "name": "protein diaphanous homolog 2 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Diaph2",
                    "type": "recommended"
                },
                {
                    "name": "Dia3",
                    "type": "synonym"
                },
                {
                    "name": "Diap2",
                    "type": "synonym"
                },
                {
                    "name": "Diaph2",
                    "type": "synonym"
                },
                {
                    "name": "Drf2",
                    "type": "synonym"
                },
                {
                    "name": "E430022I22Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "O70566-1",
            "evidence": [
                {
                    "id": "0080858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60879-1",
            "uniprot_ac": "O60879",
            "uniprot_id": "DIAP2_HUMAN",
            "refseq_ac": "NP_006720",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein diaphanous homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "DRF2",
                    "type": "synonym"
                },
                {
                    "name": "Diaphanous-related formin-2",
                    "type": "synonym"
                },
                {
                    "name": "Premature ovarian failure 2A",
                    "type": "synonym"
                },
                {
                    "name": "diaphanous homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "diaphorase-2",
                    "type": "synonym"
                },
                {
                    "name": "protein diaphanous homolog 2 isoform 156",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DIAPH2",
                    "type": "recommended"
                },
                {
                    "name": "DIA2",
                    "type": "synonym"
                },
                {
                    "name": "DIAPH2",
                    "type": "synonym"
                },
                {
                    "name": "DIA",
                    "type": "synonym"
                },
                {
                    "name": "DRF2",
                    "type": "synonym"
                },
                {
                    "name": "POF2A",
                    "type": "synonym"
                },
                {
                    "name": "POF2",
                    "type": "synonym"
                },
                {
                    "name": "POF",
                    "type": "synonym"
                }
            ],
            "record_id": "O60879-1",
            "evidence": [
                {
                    "id": "300511",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300511"
                },
                {
                    "id": "0080858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41832-1",
            "uniprot_ac": "P41832",
            "uniprot_id": "BNI1_YEAST",
            "refseq_ac": "NP_014128",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein BNI1",
                    "type": "recommended"
                },
                {
                    "name": "Pointed projection formation protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Sensitive to high expression protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Synthetic lethal 39",
                    "type": "synonym"
                },
                {
                    "name": "formin BNI1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BNI1",
                    "type": "recommended"
                },
                {
                    "name": "BNI1",
                    "type": "synonym"
                },
                {
                    "name": "N0646",
                    "type": "synonym"
                },
                {
                    "name": "PPF3",
                    "type": "synonym"
                },
                {
                    "name": "SHE5",
                    "type": "synonym"
                }
            ],
            "record_id": "P41832-1",
            "evidence": [
                {
                    "id": "0080858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZUN2-1",
            "uniprot_ac": "A0A8I5ZUN2",
            "uniprot_id": "A0A8I5ZUN2_RAT",
            "refseq_ac": "NP_001414307",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein diaphanous homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Diaphanous-related formin-2",
                    "type": "synonym"
                },
                {
                    "name": "diaphanous homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protein diaphanous homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Diaph2",
                    "type": "recommended"
                },
                {
                    "name": "AABR07040412.1",
                    "type": "synonym"
                },
                {
                    "name": "Diap2",
                    "type": "synonym"
                },
                {
                    "name": "Diaph2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564399",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZUN2-1",
            "evidence": [
                {
                    "id": "0080858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35572-1",
            "uniprot_ac": "P35572",
            "uniprot_id": "IBP6_RAT",
            "refseq_ac": "NP_037236",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-like growth factor-binding protein 6",
                    "type": "recommended"
                },
                {
                    "name": "IBP-6",
                    "type": "synonym"
                },
                {
                    "name": "IGF-binding protein 6",
                    "type": "synonym"
                },
                {
                    "name": "IGFBP-6",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor-binding protein 6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igfbp6",
                    "type": "recommended"
                },
                {
                    "name": "IGF-BP6",
                    "type": "synonym"
                },
                {
                    "name": "Igfbp-6",
                    "type": "synonym"
                },
                {
                    "name": "Igfbp6",
                    "type": "synonym"
                },
                {
                    "name": "RBP6A",
                    "type": "synonym"
                },
                {
                    "name": "RBP6G",
                    "type": "synonym"
                }
            ],
            "record_id": "P35572-1",
            "evidence": [
                {
                    "id": "0080858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080858"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48608-1",
            "uniprot_ac": "P48608",
            "uniprot_id": "DIA_DROME",
            "refseq_ac": "NP_001260640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein diaphanous",
                    "type": "recommended"
                },
                {
                    "name": "CG1768-PE",
                    "type": "synonym"
                },
                {
                    "name": "dia-PE",
                    "type": "synonym"
                },
                {
                    "name": "diaphanous, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "diaphanous",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dia",
                    "type": "recommended"
                },
                {
                    "name": "38E.16",
                    "type": "synonym"
                },
                {
                    "name": "CG1768",
                    "type": "synonym"
                },
                {
                    "name": "DIA",
                    "type": "synonym"
                },
                {
                    "name": "Diaphanous",
                    "type": "synonym"
                },
                {
                    "name": "Dias",
                    "type": "synonym"
                },
                {
                    "name": "Dia",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1768",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1768",
                    "type": "synonym"
                },
                {
                    "name": "dia",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k07135",
                    "type": "synonym"
                },
                {
                    "name": "ms(2)04138",
                    "type": "synonym"
                }
            ],
            "record_id": "P48608-1",
            "evidence": [
                {
                    "id": "0080858",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080858"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080858"
}