{
    "disease_id": "DOID:0080859",
    "recommended_name": {
        "id": "DOID:0080859",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080859",
        "name": "primary ovarian insufficiency 2B",
        "description": "A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0010373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010373",
            "name": "premature ovarian failure 2B",
            "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene."
        },
        {
            "id": "MONDO:0010373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010373",
            "name": "POF1B primary ovarian failure",
            "description": ""
        },
        {
            "id": "MONDO:0010373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010373",
            "name": "premature ovarian failure 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010373",
            "name": "premature ovarian failure 2B, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010373",
            "name": "premature ovarian failure type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0010373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010373",
            "name": "primary ovarian failure caused by mutation in POF1B",
            "description": ""
        },
        {
            "id": "MONDO:0010373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010373",
            "name": "POF2B",
            "description": ""
        },
        {
            "id": "MIM:300604",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300604",
            "name": "Premature ovarian failure 2B",
            "description": "Premature ovarian failure 2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080859"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080859",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080859",
            "categories": []
        },
        {
            "id": "MONDO:0010373",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010373",
            "categories": []
        },
        {
            "id": "MIM:300604",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300604",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB40E7W1-1",
            "uniprot_ac": "A0AB40E7W1",
            "uniprot_id": "A0AB40E7W1_DANRE",
            "refseq_ac": "XP_002666105",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein POF1B",
                    "type": "synonym"
                },
                {
                    "name": "protein POF1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pof1b",
                    "type": "recommended"
                },
                {
                    "name": "pof1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB40E7W1-1",
            "evidence": [
                {
                    "id": "0080859",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080859"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4L4-1",
            "uniprot_ac": "Q8K4L4",
            "uniprot_id": "POF1B_MOUSE",
            "refseq_ac": "NP_853557",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein POF1B",
                    "type": "recommended"
                },
                {
                    "name": "protein POF1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pof1b",
                    "type": "recommended"
                },
                {
                    "name": "2310066B14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pof1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4L4-1",
            "evidence": [
                {
                    "id": "0080859",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080859"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WVV4-2",
            "uniprot_ac": "Q8WVV4",
            "uniprot_id": "POF1B_HUMAN",
            "refseq_ac": "NP_001294869",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein POF1B",
                    "type": "recommended"
                },
                {
                    "name": "Premature ovarian failure protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "premature ovarian failure protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "premature ovarian failure, 1B",
                    "type": "synonym"
                },
                {
                    "name": "protein POF1B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein POF1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POF1B",
                    "type": "recommended"
                },
                {
                    "name": "POF1B",
                    "type": "synonym"
                },
                {
                    "name": "POF2B",
                    "type": "synonym"
                },
                {
                    "name": "POF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WVV4-2",
            "evidence": [
                {
                    "id": "300604",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300604"
                },
                {
                    "id": "0080859",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080859"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZWE3-1",
            "uniprot_ac": "D3ZWE3",
            "uniprot_id": "D3ZWE3_RAT",
            "refseq_ac": "NP_001100404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "POF1B, actin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "premature ovarian failure 1B",
                    "type": "synonym"
                },
                {
                    "name": "protein POF1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pof1b",
                    "type": "recommended"
                },
                {
                    "name": "Pof1b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560798",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZWE3-1",
            "evidence": [
                {
                    "id": "0080859",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080859"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080859"
}
