{
    "disease_id": "DOID:0080410",
    "recommended_name": {
        "id": "DOID:0080410",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080410",
        "name": "familial adenomatous polyposis 2",
        "description": "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0080410",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080410",
            "name": "MUTYH-related attenuated familial adenomatous polyposis",
            "description": ""
        },
        {
            "id": "DOID:0080410",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080410",
            "name": "MUTYH-related attenuated FAP",
            "description": ""
        },
        {
            "id": "DOID:0080410",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080410",
            "name": "MUTYH-related attenuated familial polyposis coli",
            "description": ""
        },
        {
            "id": "DOID:0080410",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080410",
            "name": "MUTYH-associated polyposis",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "familial adenomatous polyposis 2",
            "description": "An autosomal recessive hereditary cancer predisposition disorder caused by pathogenic variants in the MUTYH gene. It is characterized by an increased risk of colorectal adenomatous polyposis and carcinomas."
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "FAP2",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "MAP",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "MUTYH-associated polyposis",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "MUTYH-related AFAP",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "MUTYH-related adenomatous polyposis",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "adenomas, multiple colorectal, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "colorectal adenomatous polyposis, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "familial adenomatous polyposis 2",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "familial adenomatous polyposis, 2",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "familial adenomatous polyposis, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "MAP syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "MYH-associated polyposis",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "autosomal recessive familial adenomatous polyposis",
            "description": ""
        },
        {
            "id": "MONDO:0012041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "name": "autosomal recessive multiple colorectal adenomas",
            "description": ""
        },
        {
            "id": "MIM:608456",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608456",
            "name": "Familial adenomatous polyposis 2",
            "description": "Familial adenomatous polyposis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080410"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080410",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080410",
            "categories": []
        },
        {
            "id": "MONDO:0012041",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012041",
            "categories": []
        },
        {
            "id": "MIM:608456",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608456",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99P21-1",
            "uniprot_ac": "Q99P21",
            "uniprot_id": "MUTYH_MOUSE",
            "refseq_ac": "NP_001153053",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenine DNA glycosylase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.31",
                    "type": "synonym"
                },
                {
                    "name": "MutY homolog",
                    "type": "synonym"
                },
                {
                    "name": "a/G-specific adenine DNA glycosylase",
                    "type": "synonym"
                },
                {
                    "name": "adenine DNA glycosylase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "mMYH",
                    "type": "synonym"
                },
                {
                    "name": "mutY homolog alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mutyh",
                    "type": "recommended"
                },
                {
                    "name": "5730495A01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mutyhalpha",
                    "type": "synonym"
                },
                {
                    "name": "Mutyha",
                    "type": "synonym"
                },
                {
                    "name": "Mutyhbeta",
                    "type": "synonym"
                },
                {
                    "name": "Mutyhb",
                    "type": "synonym"
                },
                {
                    "name": "Mutyhc",
                    "type": "synonym"
                },
                {
                    "name": "Mutyh",
                    "type": "synonym"
                },
                {
                    "name": "Myh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99P21-1",
            "evidence": [
                {
                    "id": "0080410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UIF7-1",
            "uniprot_ac": "Q9UIF7",
            "uniprot_id": "MUTYH_HUMAN",
            "refseq_ac": "NP_001041637",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenine DNA glycosylase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.31",
                    "type": "synonym"
                },
                {
                    "name": "A/G-specific adenine DNA glycosylase",
                    "type": "synonym"
                },
                {
                    "name": "MutY homolog",
                    "type": "synonym"
                },
                {
                    "name": "adenine DNA glycosylase isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "hMYH",
                    "type": "synonym"
                },
                {
                    "name": "mutY homolog",
                    "type": "synonym"
                },
                {
                    "name": "mutY-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MUTYH",
                    "type": "recommended"
                },
                {
                    "name": "MUTYH",
                    "type": "synonym"
                },
                {
                    "name": "MYH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UIF7-1",
            "evidence": [
                {
                    "id": "608456",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608456"
                },
                {
                    "id": "0080410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R5G2-1",
            "uniprot_ac": "Q8R5G2",
            "uniprot_id": "MUTYH_RAT",
            "refseq_ac": "NP_579850",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenine DNA glycosylase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.2.31",
                    "type": "synonym"
                },
                {
                    "name": "MutY homolog",
                    "type": "synonym"
                },
                {
                    "name": "a/G-specific adenine DNA glycosylase",
                    "type": "synonym"
                },
                {
                    "name": "adenine DNA glycosylase",
                    "type": "synonym"
                },
                {
                    "name": "mutY homolog",
                    "type": "synonym"
                },
                {
                    "name": "rMYH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mutyh",
                    "type": "recommended"
                },
                {
                    "name": "Mutyh",
                    "type": "synonym"
                },
                {
                    "name": "Myh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R5G2-1",
            "evidence": [
                {
                    "id": "0080410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080410"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080410"
}