{
    "disease_id": "DOID:0080495",
    "recommended_name": {
        "id": "DOID:0080495",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080495",
        "name": "ovarian dysgenesis 3",
        "description": "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0013689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013689",
            "name": "ovarian dysgenesis 3",
            "description": "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene."
        },
        {
            "id": "MONDO:0013689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013689",
            "name": "46 XX gonadal dysgenesis caused by mutation in PSMC3IP",
            "description": ""
        },
        {
            "id": "MONDO:0013689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013689",
            "name": "PSMC3IP 46 XX gonadal dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0013689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013689",
            "name": "ovarian dysgenesis 3",
            "description": ""
        },
        {
            "id": "MONDO:0013689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013689",
            "name": "ovarian dysgenesis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013689",
            "name": "ODG3",
            "description": ""
        },
        {
            "id": "MIM:614324",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614324",
            "name": "Ovarian dysgenesis 3",
            "description": "Ovarian dysgenesis 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080495"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080495",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080495",
            "categories": []
        },
        {
            "id": "MONDO:0013689",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013689",
            "categories": []
        },
        {
            "id": "MIM:614324",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614324",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35047-1",
            "uniprot_ac": "O35047",
            "uniprot_id": "HOP2_MOUSE",
            "refseq_ac": "NP_032975",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homologous-pairing protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "PSMC3-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome 26S ATPase subunit 3-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "TBP-1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Tat-binding protein 1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "homologous-pairing protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "proteasome 26S ATPase subunit 3-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "tat-binding protein 1-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmc3ip",
                    "type": "recommended"
                },
                {
                    "name": "GT198",
                    "type": "synonym"
                },
                {
                    "name": "HOP2",
                    "type": "synonym"
                },
                {
                    "name": "Hop2",
                    "type": "synonym"
                },
                {
                    "name": "Psmc3ip",
                    "type": "synonym"
                },
                {
                    "name": "Tbpip",
                    "type": "synonym"
                }
            ],
            "record_id": "O35047-1",
            "evidence": [
                {
                    "id": "0080495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2W1-1",
            "uniprot_ac": "Q9P2W1",
            "uniprot_id": "HOP2_HUMAN",
            "refseq_ac": "NP_001242943",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homologous-pairing protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "DBD-interacting",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor coactivator GT198",
                    "type": "synonym"
                },
                {
                    "name": "PSMC3-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome 26S ATPase subunit 3-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "TBP-1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Tat-binding protein 1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "homologous-pairing protein 2 homolog isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "homologous-pairing protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor coactivator GT198",
                    "type": "synonym"
                },
                {
                    "name": "proteasome 26S ATPase subunit 3-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "tat-binding protein 1-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMC3IP",
                    "type": "recommended"
                },
                {
                    "name": "GT198",
                    "type": "synonym"
                },
                {
                    "name": "HOP2",
                    "type": "synonym"
                },
                {
                    "name": "HUMGT198A",
                    "type": "synonym"
                },
                {
                    "name": "ODG3",
                    "type": "synonym"
                },
                {
                    "name": "PSMC3IP",
                    "type": "synonym"
                },
                {
                    "name": "TBPIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2W1-1",
            "evidence": [
                {
                    "id": "614324",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614324"
                },
                {
                    "id": "0080495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53187-1",
            "uniprot_ac": "P53187",
            "uniprot_id": "HOP2_YEAST",
            "refseq_ac": "NP_011482",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homologous-pairing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Hop2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HOP2",
                    "type": "recommended"
                },
                {
                    "name": "HOP2",
                    "type": "synonym"
                }
            ],
            "record_id": "P53187-1",
            "evidence": [
                {
                    "id": "0080495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZY6-1",
            "uniprot_ac": "Q91ZY6",
            "uniprot_id": "HOP2_RAT",
            "refseq_ac": "NP_604453",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homologous-pairing protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor coactivator GT198",
                    "type": "synonym"
                },
                {
                    "name": "PSMC3-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome 26S ATPase subunit 3-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "homologous-pairing protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor coactivator GT198",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) 26S subunit, ATPase 3, interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "proteasome 26S ATPase subunit 3-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmc3ip",
                    "type": "recommended"
                },
                {
                    "name": "Gt198",
                    "type": "synonym"
                },
                {
                    "name": "Psmc3ip",
                    "type": "synonym"
                },
                {
                    "name": "Tbpip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZY6-1",
            "evidence": [
                {
                    "id": "0080495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080495"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080495"
}