{
    "disease_id": "DOID:0060982",
    "recommended_name": {
        "id": "DOID:0060982",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060982",
        "name": "mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition",
        "description": "A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0859346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859346",
            "name": "mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition",
            "description": ""
        },
        {
            "id": "MIM:620189",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620189",
            "name": "Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition",
            "description": "Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060982"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060982",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060982",
            "categories": []
        },
        {
            "id": "MONDO:0859346",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859346",
            "categories": []
        },
        {
            "id": "MIM:620189",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620189",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WTX8-1",
            "uniprot_ac": "Q9WTX8",
            "uniprot_id": "MD1L1_MOUSE",
            "refseq_ac": "NP_034882",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic spindle assembly checkpoint protein MAD1",
                    "type": "recommended"
                },
                {
                    "name": "MAD1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic arrest deficient 1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic arrest deficient 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic arrest deficient 1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle assembly checkpoint protein MAD1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle assembly checkpoint protein MAD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mad1l1",
                    "type": "recommended"
                },
                {
                    "name": "Mad1l1",
                    "type": "synonym"
                },
                {
                    "name": "Mad1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WTX8-1",
            "evidence": [
                {
                    "id": "0060982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6D9-1",
            "uniprot_ac": "Q9Y6D9",
            "uniprot_id": "MD1L1_HUMAN",
            "refseq_ac": "NP_001013858",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic spindle assembly checkpoint protein MAD1",
                    "type": "recommended"
                },
                {
                    "name": "HsMAD1",
                    "type": "synonym"
                },
                {
                    "name": "MAD1 mitotic arrest deficient like 1",
                    "type": "synonym"
                },
                {
                    "name": "MAD1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic arrest deficient 1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic checkpoint MAD1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Tax-binding protein 181",
                    "type": "synonym"
                },
                {
                    "name": "hMAD1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic arrest deficient 1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic checkpoint MAD1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle assembly checkpoint protein MAD1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle assembly checkpoint protein MAD1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic-arrest deficient 1, yeast, homolog-like 1",
                    "type": "synonym"
                },
                {
                    "name": "tax-binding protein 181",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein p53 inducible protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAD1L1",
                    "type": "recommended"
                },
                {
                    "name": "MAD1L1",
                    "type": "synonym"
                },
                {
                    "name": "MAD1",
                    "type": "synonym"
                },
                {
                    "name": "MVA7",
                    "type": "synonym"
                },
                {
                    "name": "PIG9",
                    "type": "synonym"
                },
                {
                    "name": "TP53I9",
                    "type": "synonym"
                },
                {
                    "name": "TXBP181",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6D9-1",
            "evidence": [
                {
                    "id": "620189",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620189"
                },
                {
                    "id": "0060982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40957-1",
            "uniprot_ac": "P40957",
            "uniprot_id": "MAD1_YEAST",
            "refseq_ac": "NP_011429",
            "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 MAD1",
                    "type": "recommended"
                },
                {
                    "name": "Mitotic arrest deficient protein 1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein MAD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAD1",
                    "type": "recommended"
                },
                {
                    "name": "MAD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40957-1",
            "evidence": [
                {
                    "id": "0060982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A596-1",
            "uniprot_ac": "A0A8I6A596",
            "uniprot_id": "A0A8I6A596_RAT",
            "refseq_ac": "XP_063127720",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitotic spindle assembly checkpoint protein MAD1",
                    "type": "recommended"
                },
                {
                    "name": "Mitotic arrest deficient 1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitotic spindle assembly checkpoint protein MAD1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mad1l1",
                    "type": "recommended"
                },
                {
                    "name": "Mad1l1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A596-1",
            "evidence": [
                {
                    "id": "0060982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060982"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060982"
}