{
    "disease_id": "DOID:0080689",
    "recommended_name": {
        "id": "DOID:0080689",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080689",
        "name": "mosaic variegated aneuploidy syndrome 3",
        "description": "A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein."
    },
    "synonyms": [
        {
            "id": "MONDO:0054736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054736",
            "name": "mosaic variegated aneuploidy syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0054736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054736",
            "name": "MVA3",
            "description": ""
        },
        {
            "id": "MIM:617598",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617598",
            "name": "Mosaic variegated aneuploidy syndrome 3",
            "description": "Mosaic variegated aneuploidy syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080689"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080689",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080689",
            "categories": []
        },
        {
            "id": "MONDO:0054736",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054736",
            "categories": []
        },
        {
            "id": "MIM:617598",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617598",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PH52-1",
            "uniprot_ac": "Q6PH52",
            "uniprot_id": "PCH2_DANRE",
            "refseq_ac": "NP_956876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pachytene checkpoint protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "TR-interacting protein 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor interactor 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "pachytene checkpoint protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor interactor 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 13 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trip13",
                    "type": "recommended"
                },
                {
                    "name": "im:6901078",
                    "type": "synonym"
                },
                {
                    "name": "pch2",
                    "type": "synonym"
                },
                {
                    "name": "trip13",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65952",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PH52-1",
            "evidence": [
                {
                    "id": "0080689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UA06-1",
            "uniprot_ac": "Q3UA06",
            "uniprot_id": "PCH2_MOUSE",
            "refseq_ac": "NP_081458",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pachytene checkpoint protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "TR-interacting protein 13",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-13",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor interactor 13",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 13",
                    "type": "synonym"
                },
                {
                    "name": "pachytene checkpoint protein 2 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pachytene checkpoint protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trip13",
                    "type": "recommended"
                },
                {
                    "name": "2410002G23Rik",
                    "type": "synonym"
                },
                {
                    "name": "D13Ertd328e",
                    "type": "synonym"
                },
                {
                    "name": "Pch2",
                    "type": "synonym"
                },
                {
                    "name": "Trip13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UA06-1",
            "evidence": [
                {
                    "id": "0080689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15645-1",
            "uniprot_ac": "Q15645",
            "uniprot_id": "PCH2_HUMAN",
            "refseq_ac": "NP_004228",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pachytene checkpoint protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "16E1-BP",
                    "type": "synonym"
                },
                {
                    "name": "HPV16 E1 protein binding protein",
                    "type": "synonym"
                },
                {
                    "name": "HPV16 E1 protein-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Human papillomavirus type 16 E1 protein-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "SH3TC1/TRIP13 fusion",
                    "type": "synonym"
                },
                {
                    "name": "TR-interacting protein 13",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-13",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor interactor 13",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 13",
                    "type": "synonym"
                },
                {
                    "name": "human papillomavirus type 16 E1 protein-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "pachytene checkpoint protein 2 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pachytene checkpoint protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIP13",
                    "type": "recommended"
                },
                {
                    "name": "16E1BP",
                    "type": "synonym"
                },
                {
                    "name": "MVA3",
                    "type": "synonym"
                },
                {
                    "name": "OOMD9",
                    "type": "synonym"
                },
                {
                    "name": "OZEMA9",
                    "type": "synonym"
                },
                {
                    "name": "PCH2",
                    "type": "synonym"
                },
                {
                    "name": "TRIP13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15645-1",
            "evidence": [
                {
                    "id": "617598",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617598"
                },
                {
                    "id": "0080689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38126-1",
            "uniprot_ac": "P38126",
            "uniprot_id": "PCH2_YEAST",
            "refseq_ac": "NP_009745",
            "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": "Pachytene checkpoint protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Pch2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCH2",
                    "type": "recommended"
                },
                {
                    "name": "PCH2",
                    "type": "synonym"
                },
                {
                    "name": "YBR1308",
                    "type": "synonym"
                }
            ],
            "record_id": "P38126-1",
            "evidence": [
                {
                    "id": "0080689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080689"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XHZ9-1",
            "uniprot_ac": "Q5XHZ9",
            "uniprot_id": "PCH2_RAT",
            "refseq_ac": "NP_001011930",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pachytene checkpoint protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "TR-interacting protein 13",
                    "type": "synonym"
                },
                {
                    "name": "TRIP-13",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor interactor 13",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid receptor-interacting protein 13",
                    "type": "synonym"
                },
                {
                    "name": "pachytene checkpoint protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "thyroid receptor-interacting protein 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trip13",
                    "type": "recommended"
                },
                {
                    "name": "Pch2",
                    "type": "synonym"
                },
                {
                    "name": "Trip13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XHZ9-1",
            "evidence": [
                {
                    "id": "0080689",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080689"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080689"
}