{
    "disease_id": "DOID:0111349",
    "recommended_name": {
        "id": "DOID:0111349",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111349",
        "name": "hereditary desmoid disease",
        "description": "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111349",
            "name": "FIF",
            "description": ""
        },
        {
            "id": "DOID:0111349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111349",
            "name": "familial infiltrative fibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "desmoid tumor",
            "description": "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential."
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "aggressive fibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "deep fibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "deep fibromatosis/desmoid tumor",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "deep fibromatosis/desmoid tumour",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "desmoid fibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "desmoid tumor",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "desmoid type fibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "desmoid-type fibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "FIF",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "desmoid disorder, hereditary",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "desmoid/aggressive fibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "name": "familial infiltrative fibromatosis",
            "description": ""
        },
        {
            "id": "MIM:135290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/135290",
            "name": "Desmoid disease, hereditary",
            "description": "Desmoid disease, hereditary"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111349"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111349",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111349",
            "categories": []
        },
        {
            "id": "MONDO:0007608",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007608",
            "categories": []
        },
        {
            "id": "MIM:135290",
            "database": "MIM",
            "url": "https://www.omim.org/entry/135290",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IWH7-1",
            "uniprot_ac": "A0A0R4IWH7",
            "uniprot_id": "A0A0R4IWH7_DANRE",
            "refseq_ac": "NP_001137312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenomatous polyposis coli protein",
                    "type": "synonym"
                },
                {
                    "name": "adenomatosis polyposis coli",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli protein",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "apc",
                    "type": "recommended"
                },
                {
                    "name": "apc",
                    "type": "synonym"
                },
                {
                    "name": "cb965",
                    "type": "synonym"
                },
                {
                    "name": "im:7150932",
                    "type": "synonym"
                },
                {
                    "name": "im:7152872",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IWH7-1",
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                    "id": "0111349",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61315-1",
            "uniprot_ac": "Q61315",
            "uniprot_id": "APC_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenomatous polyposis coli protein",
                    "type": "recommended"
                },
                {
                    "name": "Protein APC",
                    "type": "synonym"
                },
                {
                    "name": "mAPC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apc",
                    "type": "recommended"
                }
            ],
            "record_id": "Q61315-1",
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                {
                    "id": "0111349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25054-1",
            "uniprot_ac": "P25054",
            "uniprot_id": "APC_HUMAN",
            "refseq_ac": "NP_000029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenomatous polyposis coli protein",
                    "type": "recommended"
                },
                {
                    "name": "APC, WNT signaling pathway regulator",
                    "type": "synonym"
                },
                {
                    "name": "Deleted in polyposis 2.5",
                    "type": "synonym"
                },
                {
                    "name": "Protein APC",
                    "type": "synonym"
                },
                {
                    "name": "WNT signaling pathway regulator",
                    "type": "synonym"
                },
                {
                    "name": "adenomatosis polyposis coli tumor suppressor",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli (APC)",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli protein isoform b",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli protein",
                    "type": "synonym"
                },
                {
                    "name": "deleted in polyposis 2.5",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 46",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APC",
                    "type": "recommended"
                },
                {
                    "name": "APC",
                    "type": "synonym"
                },
                {
                    "name": "BTPS2",
                    "type": "synonym"
                },
                {
                    "name": "DESMD",
                    "type": "synonym"
                },
                {
                    "name": "DP2.5",
                    "type": "synonym"
                },
                {
                    "name": "DP2",
                    "type": "synonym"
                },
                {
                    "name": "DP3",
                    "type": "synonym"
                },
                {
                    "name": "GS",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R46",
                    "type": "synonym"
                }
            ],
            "record_id": "P25054-1",
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                {
                    "id": "135290",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/135290"
                },
                {
                    "id": "0111349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70478-1",
            "uniprot_ac": "P70478",
            "uniprot_id": "APC_RAT",
            "refseq_ac": "NP_036631",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenomatous polyposis coli protein",
                    "type": "recommended"
                },
                {
                    "name": "APC, WNT signaling pathway regulator",
                    "type": "synonym"
                },
                {
                    "name": "Protein APC",
                    "type": "synonym"
                },
                {
                    "name": "WNT signaling pathway regulator",
                    "type": "synonym"
                },
                {
                    "name": "adenomatosis polyposis coli",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apc",
                    "type": "recommended"
                },
                {
                    "name": "Apc",
                    "type": "synonym"
                },
                {
                    "name": "RATAPC",
                    "type": "synonym"
                }
            ],
            "record_id": "P70478-1",
            "evidence": [
                {
                    "id": "0111349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAS9-1",
            "uniprot_ac": "Q9VAS9",
            "uniprot_id": "Q9VAS9_DROME",
            "refseq_ac": "NP_001263046",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "APC-like, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "APC-like, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Apc-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG1451-PB",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli 1",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apc",
                    "type": "recommended"
                },
                {
                    "name": "APC1",
                    "type": "synonym"
                },
                {
                    "name": "APC",
                    "type": "synonym"
                },
                {
                    "name": "Apc1",
                    "type": "synonym"
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                {
                    "name": "Apc",
                    "type": "synonym"
                },
                {
                    "name": "CG1451",
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                {
                    "name": "D-APC1",
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                {
                    "name": "D-APC",
                    "type": "synonym"
                },
                {
                    "name": "DAPC",
                    "type": "synonym"
                },
                {
                    "name": "Dm APC1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1451",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1451",
                    "type": "synonym"
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                {
                    "name": "apc 1",
                    "type": "synonym"
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                {
                    "name": "apc1",
                    "type": "synonym"
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                {
                    "name": "apc",
                    "type": "synonym"
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                    "name": "d-APC",
                    "type": "synonym"
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                {
                    "name": "dAPC1",
                    "type": "synonym"
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                {
                    "name": "dAPC",
                    "type": "synonym"
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                {
                    "name": "dApc",
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                {
                    "name": "dapc1",
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                    "id": "0111349",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y1T2-1",
            "uniprot_ac": "Q9Y1T2",
            "uniprot_id": "Q9Y1T2_DROME",
            "refseq_ac": "NP_001334699",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenomatous polyposis coli 2, isoform A",
                    "type": "synonym"
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                {
                    "name": "Adenomatous polyposis coli 2, isoform C",
                    "type": "synonym"
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                {
                    "name": "Apc2-PC",
                    "type": "synonym"
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                {
                    "name": "CG6193-PC",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli 2",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli tumor suppressor homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "epithelial adenomatous polyposis coli",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Apc2",
                    "type": "recommended"
                },
                {
                    "name": "APC2",
                    "type": "synonym"
                },
                {
                    "name": "APC",
                    "type": "synonym"
                },
                {
                    "name": "Apc2",
                    "type": "synonym"
                },
                {
                    "name": "CG6193",
                    "type": "synonym"
                },
                {
                    "name": "D-APC2",
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                },
                {
                    "name": "Dm APC2",
                    "type": "synonym"
                },
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                    "name": "Dmel\\CG6193",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6193",
                    "type": "synonym"
                },
                {
                    "name": "E-APC dAPC2",
                    "type": "synonym"
                },
                {
                    "name": "E-APC",
                    "type": "synonym"
                },
                {
                    "name": "apc2",
                    "type": "synonym"
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                {
                    "name": "d-APC2",
                    "type": "synonym"
                },
                {
                    "name": "dAPC2/E-APC",
                    "type": "synonym"
                },
                {
                    "name": "dAPC2",
                    "type": "synonym"
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                {
                    "name": "dApc2",
                    "type": "synonym"
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                    "name": "dapc2",
                    "type": "synonym"
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                {
                    "name": "e-apc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y1T2-1",
            "evidence": [
                {
                    "id": "0111349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111349"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111349"
}