{
    "disease_id": "DOID:0080688",
    "recommended_name": {
        "id": "DOID:0080688",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080688",
        "name": "mosaic variegated aneuploidy syndrome",
        "description": "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes."
    },
    "synonyms": [
        {
            "id": "MONDO:0009759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009759",
            "name": "mosaic variegated aneuploidy syndrome 1",
            "description": "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene."
        },
        {
            "id": "MONDO:0009759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009759",
            "name": "BUB1B mosaic variegated aneuploidy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009759",
            "name": "Mosaic variegated aneuploidy syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009759",
            "name": "mosaic variegated aneuploidy syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009759",
            "name": "mosaic variegated aneuploidy syndrome caused by mutation in BUB1B",
            "description": ""
        },
        {
            "id": "MONDO:0009759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009759",
            "name": "mosaic variegated aneuploidy syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009759",
            "name": "MVA1",
            "description": ""
        },
        {
            "id": "MIM:257300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/257300",
            "name": "Mosaic variegated aneuploidy syndrome 1",
            "description": "Mosaic variegated aneuploidy syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060981",
            "label": "mosaic variegated aneuploidy syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060982",
            "label": "mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080141",
            "label": "mosaic variegated aneuploidy syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080142",
            "label": "mosaic variegated aneuploidy syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080689",
            "label": "mosaic variegated aneuploidy syndrome 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080689",
        "DOID:0060981",
        "DOID:0060982",
        "DOID:0080141",
        "DOID:0080142",
        "DOID:0080688"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080688",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080688",
            "categories": []
        },
        {
            "id": "MONDO:0009759",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009759",
            "categories": []
        },
        {
            "id": "MIM:257300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/257300",
            "categories": []
        }
    ],
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            "uniprot_ac": "E7F0W1",
            "uniprot_id": "SMC5_DANRE",
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            "species": [
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Structural maintenance of chromosomes protein 5",
                    "type": "recommended"
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                    "name": "structural maintenance of chromosomes protein 5",
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                    "name": "smc5",
                    "type": "recommended"
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                {
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                },
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                    "name": "pufa",
                    "type": "synonym"
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                {
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                },
                {
                    "name": "wu:fb70d10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi47h05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152845",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66377",
                    "type": "synonym"
                }
            ],
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                    "id": "0080688",
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            ],
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                    "id": "0080688",
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                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
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                }
            ],
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                {
                    "name": "Structural maintenance of chromosomes protein 5",
                    "type": "recommended"
                },
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                    "name": "MLZ-453",
                    "type": "synonym"
                },
                {
                    "name": "Protein expressed in male leptotene and zygotene spermatocytes 453",
                    "type": "synonym"
                },
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                    "name": "SMC protein 5",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
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                {
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                {
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                    "type": "synonym"
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                {
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                {
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                    "name": "mKIAA0594",
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                {
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                    "id": "0080688",
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            "uniprot_ac": "O60566",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                {
                    "name": "Mitotic checkpoint serine/threonine-protein kinase BUB1 beta",
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                {
                    "name": "2.7.11.1",
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                {
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                {
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                    "name": "Protein SSK1",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "name": "Structural maintenance of chromosomes protein 5",
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                    "name": "Drosophila melanogaster",
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                    "id": "0080688",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080688"
}