{
    "disease_id": "DOID:0080412",
    "recommended_name": {
        "id": "DOID:0080412",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080412",
        "name": "familial adenomatous polyposis 4",
        "description": "A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0044300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044300",
            "name": "familial adenomatous polyposis 4",
            "description": "An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur."
        },
        {
            "id": "MONDO:0044300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044300",
            "name": "FAP4",
            "description": ""
        },
        {
            "id": "MONDO:0044300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044300",
            "name": "MSH3-related AFAP",
            "description": ""
        },
        {
            "id": "MONDO:0044300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044300",
            "name": "MSH3-related attenuated FAP",
            "description": ""
        },
        {
            "id": "MONDO:0044300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044300",
            "name": "MSH3-related attenuated familial adenomatous polyposis",
            "description": ""
        },
        {
            "id": "MONDO:0044300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044300",
            "name": "MSH3-related attenuated familial polyposis coli",
            "description": ""
        },
        {
            "id": "MONDO:0044300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044300",
            "name": "familial adenomatous polyposis 4",
            "description": ""
        },
        {
            "id": "MONDO:0044300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044300",
            "name": "familial adenomatous polyposis type 4",
            "description": ""
        },
        {
            "id": "MIM:617100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617100",
            "name": "Familial adenomatous polyposis 4",
            "description": "Familial adenomatous polyposis 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080412"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080412",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080412",
            "categories": []
        },
        {
            "id": "MONDO:0044300",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044300",
            "categories": []
        },
        {
            "id": "MIM:617100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B2S9-1",
            "uniprot_ac": "A0A8M3B2S9",
            "uniprot_id": "A0A8M3B2S9_DANRE",
            "refseq_ac": "XP_009300056",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein MSH3",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein MSH3",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein Msh3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "msh3",
                    "type": "recommended"
                },
                {
                    "name": "msh3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-56d12.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B2S9-1",
            "evidence": [
                {
                    "id": "0080412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13705-1",
            "uniprot_ac": "P13705",
            "uniprot_id": "MSH3_MOUSE",
            "refseq_ac": "NP_034959",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Msh3",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein Msh3",
                    "type": "synonym"
                },
                {
                    "name": "Protein repair-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein repair-3",
                    "type": "synonym"
                },
                {
                    "name": "REP-1",
                    "type": "synonym"
                },
                {
                    "name": "REP-3",
                    "type": "synonym"
                },
                {
                    "name": "protein repair-1",
                    "type": "synonym"
                },
                {
                    "name": "protein repair-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msh3",
                    "type": "recommended"
                },
                {
                    "name": "D13Em1",
                    "type": "synonym"
                },
                {
                    "name": "Msh3",
                    "type": "synonym"
                },
                {
                    "name": "REP-1",
                    "type": "synonym"
                },
                {
                    "name": "Rep-3",
                    "type": "synonym"
                },
                {
                    "name": "Rep3",
                    "type": "synonym"
                }
            ],
            "record_id": "P13705-1",
            "evidence": [
                {
                    "id": "0080412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20585-1",
            "uniprot_ac": "P20585",
            "uniprot_id": "MSH3_HUMAN",
            "refseq_ac": "NP_002430",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Msh3",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh3",
                    "type": "synonym"
                },
                {
                    "name": "DUP",
                    "type": "synonym"
                },
                {
                    "name": "Divergent upstream protein",
                    "type": "synonym"
                },
                {
                    "name": "MRP1",
                    "type": "synonym"
                },
                {
                    "name": "Mismatch repair protein 1",
                    "type": "synonym"
                },
                {
                    "name": "divergent upstream protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "hMSH3",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSH3",
                    "type": "recommended"
                },
                {
                    "name": "DUC1",
                    "type": "synonym"
                },
                {
                    "name": "DUG",
                    "type": "synonym"
                },
                {
                    "name": "DUP",
                    "type": "synonym"
                },
                {
                    "name": "FAP4",
                    "type": "synonym"
                },
                {
                    "name": "MRP1",
                    "type": "synonym"
                },
                {
                    "name": "MSH3",
                    "type": "synonym"
                }
            ],
            "record_id": "P20585-1",
            "evidence": [
                {
                    "id": "617100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617100"
                },
                {
                    "id": "0080412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25336-1",
            "uniprot_ac": "P25336",
            "uniprot_id": "MSH3_YEAST",
            "refseq_ac": "NP_010016",
            "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": "DNA mismatch repair protein MSH3",
                    "type": "recommended"
                },
                {
                    "name": "MBP",
                    "type": "synonym"
                },
                {
                    "name": "Mismatch-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "MutS protein homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair protein MSH3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSH3",
                    "type": "recommended"
                },
                {
                    "name": "MSH3",
                    "type": "synonym"
                },
                {
                    "name": "YCR1152",
                    "type": "synonym"
                },
                {
                    "name": "YCR92C",
                    "type": "synonym"
                }
            ],
            "record_id": "P25336-1",
            "evidence": [
                {
                    "id": "0080412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LER1-1",
            "uniprot_ac": "A0ABK0LER1",
            "uniprot_id": "A0ABK0LER1_RAT",
            "refseq_ac": "NP_001178886",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENSRNOG00000064838",
                    "type": "recommended"
                },
                {
                    "name": "Msh3",
                    "type": "recommended"
                },
                {
                    "name": "ENSRNOG00000064838",
                    "type": "synonym"
                },
                {
                    "name": "Msh3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LER1-1",
            "evidence": [
                {
                    "id": "0080412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080412"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080412"
}