{
    "disease_id": "DOID:0080141",
    "recommended_name": {
        "id": "DOID:0080141",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080141",
        "name": "mosaic variegated aneuploidy syndrome 1",
        "description": "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15."
    },
    "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_list": [
        "DOID:0080141"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080141",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080141",
            "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": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q636-1",
            "uniprot_ac": "F1Q636",
            "uniprot_id": "F1Q636_DANRE",
            "refseq_ac": "XP_005160972",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic checkpoint serine/threonine-protein kinase BUB1 beta isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic checkpoint serine/threonine-protein kinase BUB1 beta isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bub1ba",
                    "type": "recommended"
                },
                {
                    "name": "bub1ba",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q636-1",
            "evidence": [
                {
                    "id": "0080141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F5T9-1",
            "uniprot_ac": "E7F5T9",
            "uniprot_id": "E7F5T9_DANRE",
            "refseq_ac": "NP_001429377",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic checkpoint serine/threonine-protein kinase BUB1 beta",
                    "type": "synonym"
                },
                {
                    "name": "budding uninhibited by benzimidazoles 1 homolog beta b",
                    "type": "synonym"
                },
                {
                    "name": "mitotic checkpoint serine/threonine-protein kinase BUB1 beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bub1bb",
                    "type": "recommended"
                },
                {
                    "name": "bub1bb",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb730",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F5T9-1",
            "evidence": [
                {
                    "id": "0080141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1S0-1",
            "uniprot_ac": "Q9Z1S0",
            "uniprot_id": "BUB1B_MOUSE",
            "refseq_ac": "NP_033903",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic checkpoint serine/threonine-protein kinase BUB1 beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "BubR1",
                    "type": "synonym"
                },
                {
                    "name": "MAD3/BUB1-related protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic checkpoint kinase MAD3L",
                    "type": "synonym"
                },
                {
                    "name": "budding uninhibited by benzimidazoles 1 beta",
                    "type": "synonym"
                },
                {
                    "name": "budding uninhibited by benzimidazoles 1 homolog, beta",
                    "type": "synonym"
                },
                {
                    "name": "mitotic checkpoint kinase MAD3L",
                    "type": "synonym"
                },
                {
                    "name": "mitotic checkpoint serine/threonine-protein kinase BUB1 beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bub1b",
                    "type": "recommended"
                },
                {
                    "name": "BUBR1",
                    "type": "synonym"
                },
                {
                    "name": "Bub1b",
                    "type": "synonym"
                },
                {
                    "name": "Mad3l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1S0-1",
            "evidence": [
                {
                    "id": "0080141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60566-1",
            "uniprot_ac": "O60566",
            "uniprot_id": "BUB1B_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic checkpoint serine/threonine-protein kinase BUB1 beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "MAD3/BUB1-related protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic checkpoint kinase MAD3L",
                    "type": "synonym"
                },
                {
                    "name": "Protein SSK1",
                    "type": "synonym"
                },
                {
                    "name": "hBUBR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BUB1B",
                    "type": "recommended"
                },
                {
                    "name": "BUBR1",
                    "type": "synonym"
                },
                {
                    "name": "MAD3L",
                    "type": "synonym"
                },
                {
                    "name": "SSK1",
                    "type": "synonym"
                }
            ],
            "record_id": "O60566-1",
            "evidence": [
                {
                    "id": "257300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/257300"
                },
                {
                    "id": "0080141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47074-1",
            "uniprot_ac": "P47074",
            "uniprot_id": "MAD3_YEAST",
            "refseq_ac": "NP_012521",
            "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": "Spindle assembly checkpoint component MAD3",
                    "type": "recommended"
                },
                {
                    "name": "Mad3p",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic MAD3 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAD3",
                    "type": "recommended"
                },
                {
                    "name": "J1341",
                    "type": "synonym"
                },
                {
                    "name": "MAD3",
                    "type": "synonym"
                }
            ],
            "record_id": "P47074-1",
            "evidence": [
                {
                    "id": "0080141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LMI1-1",
            "uniprot_ac": "F1LMI1",
            "uniprot_id": "F1LMI1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic checkpoint serine/threonine-protein kinase BUB1 beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "MAD3/BUB1-related protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic checkpoint kinase MAD3L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bub1b",
                    "type": "recommended"
                }
            ],
            "record_id": "F1LMI1-1",
            "evidence": [
                {
                    "id": "0080141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080141"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080141"
}