{
    "disease_id": "DOID:0050424",
    "recommended_name": {
        "id": "DOID:0050424",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050424",
        "name": "familial adenomatous polyposis",
        "description": "An intestinal disease that is characterized by predisposition to colon cancer."
    },
    "synonyms": [
        {
            "id": "DOID:0050424",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050424",
            "name": "adenomatous polyposis of the colon",
            "description": ""
        },
        {
            "id": "MONDO:0021056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021056",
            "name": "familial adenomatous polyposis 1",
            "description": "An autosomal dominant disorder caused by pathogenic variants in the APC gene, characterized by the development of colorectal adenomatous polyposis, a very high risk of colorectal cancer and other extracolonic manifestations including both classic and attenuated familial adenomatous polyposis (FAP)."
        },
        {
            "id": "MONDO:0021056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021056",
            "name": "adenomatous polyposis coli",
            "description": ""
        },
        {
            "id": "MONDO:0021056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021056",
            "name": "APC-related adenomatous polyposis",
            "description": ""
        },
        {
            "id": "MONDO:0021056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021056",
            "name": "FAP1",
            "description": ""
        },
        {
            "id": "MONDO:0021056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021056",
            "name": "adenoma, periampullary, somatic",
            "description": ""
        },
        {
            "id": "MONDO:0021056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021056",
            "name": "familial adenomatous polyposis 1",
            "description": ""
        },
        {
            "id": "MIM:175100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/175100",
            "name": "Familial adenomatous polyposis 1",
            "description": "Familial adenomatous polyposis 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080409",
            "label": "familial adenomatous polyposis 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080410",
            "label": "familial adenomatous polyposis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080411",
            "label": "familial adenomatous polyposis 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080412",
            "label": "familial adenomatous polyposis 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080411",
        "DOID:0080412",
        "DOID:0050424",
        "DOID:0080409",
        "DOID:0080410"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050424",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050424",
            "categories": []
        },
        {
            "id": "MONDO:0021056",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021056",
            "categories": []
        },
        {
            "id": "MIM:175100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/175100",
            "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"
                }
            ],
            "gene_names": [
                {
                    "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",
            "evidence": [
                {
                    "id": "0050424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57095-1",
            "uniprot_ac": "P57095",
            "uniprot_id": "AXIN2_DANRE",
            "refseq_ac": "NP_571636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Axin-2",
                    "type": "recommended"
                },
                {
                    "name": "Axis inhibition protein 2",
                    "type": "synonym"
                },
                {
                    "name": "axin-2",
                    "type": "synonym"
                },
                {
                    "name": "axis inhibition protein 2",
                    "type": "synonym"
                },
                {
                    "name": "etID37069.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "axin2",
                    "type": "recommended"
                },
                {
                    "name": "axil",
                    "type": "synonym"
                },
                {
                    "name": "axin2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb37c08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111942",
                    "type": "synonym"
                }
            ],
            "record_id": "P57095-1",
            "evidence": [
                {
                    "id": "0050424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q98862-1",
            "uniprot_ac": "Q98862",
            "uniprot_id": "IHH_DANRE",
            "refseq_ac": "NP_571163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Indian hedgehog B protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "EHH",
                    "type": "synonym"
                },
                {
                    "name": "Echidna hedgehog protein",
                    "type": "synonym"
                },
                {
                    "name": "IHHB",
                    "type": "synonym"
                },
                {
                    "name": "Indian hedgehog homolog b",
                    "type": "synonym"
                },
                {
                    "name": "echidna hedgehog protein",
                    "type": "synonym"
                },
                {
                    "name": "hh[b]",
                    "type": "synonym"
                },
                {
                    "name": "hhb",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog B protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog B protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ihhb",
                    "type": "recommended"
                },
                {
                    "name": "IHH",
                    "type": "synonym"
                },
                {
                    "name": "ehh",
                    "type": "synonym"
                },
                {
                    "name": "ihhb",
                    "type": "synonym"
                },
                {
                    "name": "ihh",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113262",
                    "type": "synonym"
                }
            ],
            "record_id": "Q98862-1",
            "evidence": [
                {
                    "id": "0050424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "0050424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
                }
            ]
        },
        {
            "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": "0050424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88566-1",
            "uniprot_ac": "O88566",
            "uniprot_id": "AXIN2_MOUSE",
            "refseq_ac": "NP_056547",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Axin-2",
                    "type": "recommended"
                },
                {
                    "name": "Axil",
                    "type": "synonym"
                },
                {
                    "name": "Axin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Axis inhibition protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Conductin",
                    "type": "synonym"
                },
                {
                    "name": "axin-2",
                    "type": "synonym"
                },
                {
                    "name": "axin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "axis inhibition protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Axin2",
                    "type": "recommended"
                },
                {
                    "name": "Axi1",
                    "type": "synonym"
                },
                {
                    "name": "Axil",
                    "type": "synonym"
                },
                {
                    "name": "Axin2",
                    "type": "synonym"
                },
                {
                    "name": "Conductin",
                    "type": "synonym"
                }
            ],
            "record_id": "O88566-1",
            "evidence": [
                {
                    "id": "0050424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97812-1",
            "uniprot_ac": "P97812",
            "uniprot_id": "IHH_MOUSE",
            "refseq_ac": "NP_034674",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Indian hedgehog protein",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "HHG-2",
                    "type": "synonym"
                },
                {
                    "name": "IHH",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog protein isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "indian hedgehog protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ihh",
                    "type": "recommended"
                },
                {
                    "name": "HHG-2",
                    "type": "synonym"
                },
                {
                    "name": "Ihh",
                    "type": "synonym"
                }
            ],
            "record_id": "P97812-1",
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                {
                    "id": "0050424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62077-1",
            "uniprot_ac": "Q62077",
            "uniprot_id": "PLCG1_MOUSE",
            "refseq_ac": "NP_067255",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "cell differentiation and embryonic development",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-gamma-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plcg1",
                    "type": "recommended"
                },
                {
                    "name": "Cded",
                    "type": "synonym"
                },
                {
                    "name": "Plc-1",
                    "type": "synonym"
                },
                {
                    "name": "Plc-gamma1",
                    "type": "synonym"
                },
                {
                    "name": "Plcg-1",
                    "type": "synonym"
                },
                {
                    "name": "Plcg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62077-1",
            "evidence": [
                {
                    "id": "0050424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "175100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/175100"
                },
                {
                    "id": "0050424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29295-1",
            "uniprot_ac": "P29295",
            "uniprot_id": "HRR25_YEAST",
            "refseq_ac": "NP_015120",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Casein kinase I homolog HRR25",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase HRR25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HRR25",
                    "type": "recommended"
                },
                {
                    "name": "HRR25",
                    "type": "synonym"
                },
                {
                    "name": "KTI14",
                    "type": "synonym"
                }
            ],
            "record_id": "P29295-1",
            "evidence": [
                {
                    "id": "0050424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32383-1",
            "uniprot_ac": "P32383",
            "uniprot_id": "PLC1_YEAST",
            "refseq_ac": "NP_015055",
            "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": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-1",
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                    "name": "Phosphoinositide phospholipase C",
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                {
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                }
            ],
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                }
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                }
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                    "id": "0050424",
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                    "id": "0050424",
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                    "id": "0050424",
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                {
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                    "name": "bar",
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                    "name": "hh",
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                    "name": "l(3)hh",
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                {
                    "name": "l(3)neo56",
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                {
                    "name": "l(3)neo57",
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                    "id": "0050424",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050424"
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                }
            ],
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                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma",
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                    "name": "3.1.4.11",
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                    "name": "CG4200-PA",
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                {
                    "name": "phospholipase C gamma",
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                },
                {
                    "name": "phospholipase cgamma",
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                    "name": "sl-PA",
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                {
                    "name": "small wing",
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                }
            ],
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                {
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                {
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                {
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            ],
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                {
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                {
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                {
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                {
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            ],
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                {
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                {
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            ],
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                {
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                {
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                },
                {
                    "name": "Phospholipase C-gamma-1",
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                {
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                {
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                    "name": "phosphatidylinositol phospholipase C",
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                {
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                {
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                {
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                {
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                {
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                {
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                {
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                }
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            ],
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                }
            ],
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050424"
}