{
    "disease_id": "DOID:0060573",
    "recommended_name": {
        "id": "DOID:0060573",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060573",
        "name": "von Willebrand's disease 1",
        "description": "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060573",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060573",
            "name": "VWD type 1",
            "description": ""
        },
        {
            "id": "DOID:0060573",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060573",
            "name": "VWD1",
            "description": ""
        },
        {
            "id": "DOID:0060573",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060573",
            "name": "von Willebrand disease type 1",
            "description": ""
        },
        {
            "id": "DOID:0060573",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060573",
            "name": "von Willebrand disease type I",
            "description": ""
        },
        {
            "id": "MONDO:0008668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008668",
            "name": "von Willebrand disease 1",
            "description": "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)."
        },
        {
            "id": "MONDO:0008668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008668",
            "name": "VWD1",
            "description": ""
        },
        {
            "id": "MONDO:0008668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008668",
            "name": "von Willebrand disease 1",
            "description": ""
        },
        {
            "id": "MONDO:0008668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008668",
            "name": "von Willebrand disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008668",
            "name": "von Willebrand's disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008668",
            "name": "von willebrand's disease 1",
            "description": ""
        },
        {
            "id": "MONDO:0008668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008668",
            "name": "VON WILLEBRAND disease, type 1",
            "description": ""
        },
        {
            "id": "MIM:193400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193400",
            "name": "von Willebrand disease 1",
            "description": "von Willebrand disease 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060573"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060573",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060573",
            "categories": []
        },
        {
            "id": "MONDO:0008668",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008668",
            "categories": []
        },
        {
            "id": "MIM:193400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/193400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QC06-1",
            "uniprot_ac": "F1QC06",
            "uniprot_id": "F1QC06_DANRE",
            "refseq_ac": "XP_003199352",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "itga2.2",
                    "type": "recommended"
                },
                {
                    "name": "itga2.2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QC06-1",
            "evidence": [
                {
                    "id": "0060573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QB78-1",
            "uniprot_ac": "F1QB78",
            "uniprot_id": "F1QB78_DANRE",
            "refseq_ac": "XP_002663097",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasminogen activator",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.68",
                    "type": "synonym"
                },
                {
                    "name": "tissue-type plasminogen activator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plat",
                    "type": "recommended"
                },
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                    "name": "plat",
                    "type": "synonym"
                }
            ],
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                    "id": "0060573",
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            "uniprot_canonical_ac": "Q62469-1",
            "uniprot_ac": "Q62469",
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            "refseq_ac": "NP_032422",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "CD49 antigen-like family member B",
                    "type": "synonym"
                },
                {
                    "name": "Collagen receptor",
                    "type": "synonym"
                },
                {
                    "name": "GPIa",
                    "type": "synonym"
                },
                {
                    "name": "Platelet membrane glycoprotein Ia",
                    "type": "synonym"
                },
                {
                    "name": "VLA-2 receptor, alpha 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "VLA-2 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "collagen receptor",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "platelet membrane glycoprotein Ia",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itga2",
                    "type": "recommended"
                },
                {
                    "name": "CD49B",
                    "type": "synonym"
                },
                {
                    "name": "DX5",
                    "type": "synonym"
                },
                {
                    "name": "GPIa",
                    "type": "synonym"
                },
                {
                    "name": "Itga2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62469-1",
            "evidence": [
                {
                    "id": "0060573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QUM0-1",
            "uniprot_ac": "Q9QUM0",
            "uniprot_id": "ITA2B_MOUSE",
            "refseq_ac": "NP_034705",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-IIb",
                    "type": "recommended"
                },
                {
                    "name": "GP IIb",
                    "type": "synonym"
                },
                {
                    "name": "GPIIb",
                    "type": "synonym"
                },
                {
                    "name": "GPalpha IIb",
                    "type": "synonym"
                },
                {
                    "name": "Platelet membrane glycoprotein IIb",
                    "type": "synonym"
                },
                {
                    "name": "alpha IIb",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-IIb precursor",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-IIb",
                    "type": "synonym"
                },
                {
                    "name": "platelet glycoprotein IIb of IIb/II Ia complex",
                    "type": "synonym"
                },
                {
                    "name": "platelet membrane glycoprotein IIb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itga2b",
                    "type": "recommended"
                },
                {
                    "name": "CD41B",
                    "type": "synonym"
                },
                {
                    "name": "CD41",
                    "type": "synonym"
                },
                {
                    "name": "GpIIb",
                    "type": "synonym"
                },
                {
                    "name": "Itga2b",
                    "type": "synonym"
                },
                {
                    "name": "alphaIIb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QUM0-1",
            "evidence": [
                {
                    "id": "0060573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CIZ8-1",
            "uniprot_ac": "Q8CIZ8",
            "uniprot_id": "VWF_MOUSE",
            "refseq_ac": "NP_035838",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor",
                    "type": "recommended"
                },
                {
                    "name": "Von Willebrand factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "vWF",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand antigen II",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vwf",
                    "type": "recommended"
                },
                {
                    "name": "6820430P06Rik",
                    "type": "synonym"
                },
                {
                    "name": "B130011O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "C630030D09",
                    "type": "synonym"
                },
                {
                    "name": "F8VWF",
                    "type": "synonym"
                },
                {
                    "name": "VWD",
                    "type": "synonym"
                },
                {
                    "name": "Vwf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIZ8-1",
            "evidence": [
                {
                    "id": "0060573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060573"
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            ]
        },
        {
            "uniprot_canonical_ac": "P11214-1",
            "uniprot_ac": "P11214",
            "uniprot_id": "TPA_MOUSE",
            "refseq_ac": "NP_032898",
            "glycoprotein": "yes",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Tissue-type plasminogen activator",
                    "type": "recommended"
                },
                {
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                {
                    "name": "t-PA",
                    "type": "synonym"
                },
                {
                    "name": "t-plasminogen activator",
                    "type": "synonym"
                },
                {
                    "name": "tPA",
                    "type": "synonym"
                },
                {
                    "name": "tissue-type plasminogen activator preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plat",
                    "type": "recommended"
                },
                {
                    "name": "D8Ertd2e",
                    "type": "synonym"
                },
                {
                    "name": "Plat",
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                    "id": "0060573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060573"
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            ]
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        {
            "uniprot_canonical_ac": "P04275-1",
            "uniprot_ac": "P04275",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
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            ],
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                    "name": "von Willebrand factor",
                    "type": "recommended"
                },
                {
                    "name": "Factor VIII related antigen",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor VIII VWF",
                    "type": "synonym"
                },
                {
                    "name": "vWF",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand antigen II",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor preproprotein",
                    "type": "synonym"
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            ],
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                {
                    "name": "VWF",
                    "type": "recommended"
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                {
                    "name": "VWD",
                    "type": "synonym"
                },
                {
                    "name": "VWF",
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                }
            ],
            "record_id": "P04275-1",
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                {
                    "id": "0060573",
                    "database": "AGR",
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                {
                    "name": "Rattus norvegicus",
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                }
            ],
            "protein_names": [
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                    "name": "Integrin alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "CD49 antigen-like family member B",
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                },
                {
                    "name": "Collagen receptor",
                    "type": "synonym"
                },
                {
                    "name": "Platelet membrane glycoprotein Ia",
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                },
                {
                    "name": "VLA-2 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha 2",
                    "type": "synonym"
                },
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                    "name": "platelet glycoprotein Ia",
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            ],
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                {
                    "name": "Itga2",
                    "type": "recommended"
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                    "name": "Itga2",
                    "type": "synonym"
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                {
                    "id": "0060573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GGN2-1",
            "uniprot_ac": "A0A8I6GGN2",
            "uniprot_id": "A0A8I6GGN2_RAT",
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                }
            ],
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                {
                    "name": "Integrin alpha-IIb",
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                },
                {
                    "name": "GPalpha IIb",
                    "type": "synonym"
                },
                {
                    "name": "Platelet membrane glycoprotein IIb",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha 2b (Cd41b)",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-IIb precursor",
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                },
                {
                    "name": "integrin alpha-IIb",
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                {
                    "name": "integrin, alpha 2B",
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                }
            ],
            "gene_names": [
                {
                    "name": "Itga2b",
                    "type": "recommended"
                },
                {
                    "name": "Itga2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GGN2-1",
            "evidence": [
                {
                    "id": "0060573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62935-1",
            "uniprot_ac": "Q62935",
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            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor",
                    "type": "recommended"
                },
                {
                    "name": "vWF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vwf",
                    "type": "recommended"
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            ],
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                {
                    "id": "0060573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060573"
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            "uniprot_canonical_ac": "P19637-1",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tissue-type plasminogen activator",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.68",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "t-plasminogen activator",
                    "type": "synonym"
                },
                {
                    "name": "tPA",
                    "type": "synonym"
                },
                {
                    "name": "tissue plasminogen activator",
                    "type": "synonym"
                },
                {
                    "name": "tissue-type plasminogen activator precursor",
                    "type": "synonym"
                },
                {
                    "name": "tissue-type plasminogen activator-like",
                    "type": "synonym"
                },
                {
                    "name": "tissue-type plasminogen activator",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Plat",
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                    "name": "PATISS",
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                },
                {
                    "name": "Plat",
                    "type": "synonym"
                },
                {
                    "name": "tPA",
                    "type": "synonym"
                }
            ],
            "record_id": "P19637-1",
            "evidence": [
                {
                    "id": "0060573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V7A4-1",
            "uniprot_ac": "Q9V7A4",
            "uniprot_id": "ITA4_DROME",
            "refseq_ac": "NP_611025",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-PS4",
                    "type": "recommended"
                },
                {
                    "name": "CG16827-PA",
                    "type": "synonym"
                },
                {
                    "name": "ItgaPS4-PA",
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                {
                    "name": "Position-specific antigen subunit alpha-4",
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                },
                {
                    "name": "alphaPS4 integrin",
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                {
                    "name": "integrin alphaPS4 subunit",
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                }
            ],
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                    "name": "ItgaPS4",
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                    "name": "CG16827",
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                    "name": "CT37393",
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                {
                    "name": "Dmel\\CG16827",
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                    "name": "ItgaPS4",
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                {
                    "name": "ItgalphaPS4",
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                {
                    "name": "alpha-PS4",
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                {
                    "name": "alpha-ps4",
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                {
                    "name": "alphaPS4",
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                }
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                    "id": "0060573",
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                    "name": "CG8095-PB",
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                {
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                    "name": "Protein scab",
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                    "name": "Protein volado",
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                    "name": "aVolado",
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                    "name": "alpha Position-Specific antigen 3",
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                    "name": "alpha3 integrin subunit",
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                    "name": "alphaPS3 integrin",
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                    "name": "beta[[PS3]]integrin",
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                    "name": "complementation group 2.11",
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                    "name": "integrin alpha PS3",
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                {
                    "name": "integrin alphaPS3 subunit",
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                {
                    "name": "laminin receptor integrin alpha-PS3",
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                    "name": "lethal (2) 51Ea",
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                    "name": "scab, isoform B",
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                    "name": "scab",
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                {
                    "name": "scb-PB",
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                    "name": "volado",
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                    "name": "CG8095",
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                    "name": "CT21280",
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                    "name": "CT36929",
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                    "name": "Dmel\\CG8095",
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                    "name": "E(Sev-CycE)E93",
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                    "name": "E(sev-cycE)[e93]",
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                    "name": "ITA3",
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                    "name": "Integrin alpha PS3",
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                    "name": "ItgaPS3",
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                    "name": "PS3",
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                    "name": "Vol",
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                    "name": "aPS3",
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                    "name": "alpha-PS3",
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                    "name": "alphaInt3",
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                    "name": "alpha[[PS3]]",
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                    "name": "beta[[PS3]",
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                    "name": "integrin",
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                {
                    "name": "l(2)01288",
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                    "name": "l(2)51Ea",
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                    "name": "scb",
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                    "name": "vol",
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                    "id": "0060573",
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                    "name": "PS II alpha",
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                {
                    "name": "Position-specific antigen subunit alpha-2",
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                {
                    "name": "Protein inflated",
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                    "name": "alpha integrin",
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                {
                    "name": "alpha-PS2-integrin",
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                    "name": "alpha2 integrin",
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                    "name": "alphaPS2 integrin",
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                    "name": "if-PD",
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                    "name": "integrin PSI alpha subunit",
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                    "name": "integrin alpha PS2",
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                    "name": "alphaPS2m8",
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                {
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                    "id": "0060573",
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                    "name": "platelet membrane glycoprotein Ia",
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    "record_id": "doid.0060573"
}