{
    "disease_id": "DOID:0111907",
    "recommended_name": {
        "id": "DOID:0111907",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111907",
        "name": "thrombophilia due to thrombin defect",
        "description": "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111907",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111907",
            "name": "prothrombin thrombophilia",
            "description": ""
        },
        {
            "id": "DOID:0111907",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111907",
            "name": "THPH1",
            "description": ""
        },
        {
            "id": "DOID:0111907",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111907",
            "name": "prothrombin-related thrombophilia",
            "description": ""
        },
        {
            "id": "DOID:0111907",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111907",
            "name": "thrombophilia due to factor 2 defect",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "thrombophilia due to thrombin defect",
            "description": "The formation of a blood clot (thrombus) in the lumen of a vein."
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "Venous thromboembolism",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "prothrombin thrombophilia",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "prothrombin-related thrombophilia",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "thrombophilia 1 due to thrombin defect",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "thrombophilia due to thrombin defect",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "venous thromboembolism, susceptibility to",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "venous thrombosis, protection against",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "THPH1",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "factor II-related thrombophilia",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "hyperprothrombinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "prothrombin 20210G>A thrombophilia",
            "description": ""
        },
        {
            "id": "MONDO:0008559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "name": "prothrombin G20210A thrombophilia",
            "description": ""
        },
        {
            "id": "MIM:188050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/188050",
            "name": "Thrombophilia due to thrombin defect",
            "description": "Thrombophilia due to thrombin defect"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111907"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111907",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111907",
            "categories": []
        },
        {
            "id": "MONDO:0008559",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008559",
            "categories": []
        },
        {
            "id": "MIM:188050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/188050",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "F1QC84",
            "uniprot_id": "F1QC84_DANRE",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Coagulation factor XIII, A1 polypeptide a, tandem duplicate 1",
                    "type": "synonym"
                },
                {
                    "name": "FXIIIa-42",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XIII, A1 polypeptide a, tandem duplicate 1",
                    "type": "synonym"
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                {
                    "name": "f13a1a",
                    "type": "synonym"
                }
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                {
                    "name": "f13a1a.1",
                    "type": "recommended"
                },
                {
                    "name": "f13a1a.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152982",
                    "type": "synonym"
                }
            ],
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111907"
                }
            ]
        },
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            "uniprot_ac": "F1QW52",
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                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "trypsin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.4",
                    "type": "synonym"
                },
                {
                    "name": "hyaluronan-binding protein 2 precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "habp2",
                    "type": "recommended"
                },
                {
                    "name": "fd56a04",
                    "type": "synonym"
                },
                {
                    "name": "habp2",
                    "type": "synonym"
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                {
                    "name": "wu:fd56a04",
                    "type": "synonym"
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                {
                    "name": "zgc:171352",
                    "type": "synonym"
                }
            ],
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                    "id": "0111907",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111907"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FAN5-1",
            "uniprot_ac": "E7FAN5",
            "uniprot_id": "E7FAN5_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prothrombin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.5",
                    "type": "synonym"
                },
                {
                    "name": "Coagulation factor II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "f2",
                    "type": "recommended"
                },
                {
                    "name": "wu:fb57c10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd42e09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd59d01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66319",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111907",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111907"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0V153-1",
            "uniprot_ac": "B0V153",
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            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Methylenetetrahydrofolate reductase (NADPH)",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.53",
                    "type": "synonym"
                },
                {
                    "name": "5,10-methylenetetrahydrofolate reductase (NADPH)",
                    "type": "synonym"
                },
                {
                    "name": "methylenetetrahydrofolate reductase (NADPH)",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "mthfr",
                    "type": "recommended"
                },
                {
                    "name": "fa92h12",
                    "type": "synonym"
                },
                {
                    "name": "im:7144504",
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                },
                {
                    "name": "mthfr",
                    "type": "synonym"
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                {
                    "name": "si:dkeyp-100a1.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa92h12",
                    "type": "synonym"
                }
            ],
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                    "id": "0111907",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BH61-1",
            "uniprot_ac": "Q8BH61",
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            "refseq_ac": "NP_001159863",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coagulation factor XIII A chain",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "Coagulation factor XIIIa",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase A chain",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase A chain",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XIII A chain",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XIII, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XIIIa",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase A chain",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase A chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F13a1",
                    "type": "recommended"
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                {
                    "name": "1200014I03Rik",
                    "type": "synonym"
                },
                {
                    "name": "F13a1",
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                {
                    "name": "F13a",
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                }
            ],
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                    "id": "0111907",
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            "uniprot_canonical_ac": "P19221-1",
            "uniprot_ac": "P19221",
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Prothrombin",
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                },
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                {
                    "name": "Coagulation factor II",
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                },
                {
                    "name": "prothrombin preproprotein",
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                {
                    "name": "prothrombin",
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                {
                    "name": "thrombin",
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            ],
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                    "name": "F2",
                    "type": "recommended"
                },
                {
                    "name": "Cf-2",
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                },
                {
                    "name": "Cf2",
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                },
                {
                    "name": "F2",
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                    "name": "FII",
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                    "id": "0111907",
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Factor VII-activating protease",
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                    "name": "3.4.21.-",
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                },
                {
                    "name": "FSAP",
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                {
                    "name": "FVII activator",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte growth factor activator-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Hyaluronan-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "PHBP",
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                {
                    "name": "Plasma hyaluronan-binding protein",
                    "type": "synonym"
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                {
                    "name": "factor VII-activating protease isoform 2 precursor",
                    "type": "synonym"
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                {
                    "name": "factor VII-activating protease",
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                {
                    "name": "hepatocyte growth factor activator-like protein",
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                {
                    "name": "hyaduronic acid-binding protein 2",
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                {
                    "name": "hyaluronan-binding protein 2",
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                {
                    "name": "plasma hyaluronan-binding protein",
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                    "name": "HABP",
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                {
                    "name": "HGFAL",
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                    "name": "PHBP",
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                    "id": "0111907",
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                }
            ]
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                }
            ],
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                    "id": "0111907",
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                }
            ],
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                    "name": "Prothrombin",
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                {
                    "name": "Coagulation factor II",
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                    "name": "prepro-coagulation factor II",
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                    "name": "prothrombin B-chain",
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                {
                    "name": "RPRGL2",
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                    "name": "THPH1",
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                    "id": "188050",
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                },
                {
                    "id": "0111907",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111907"
                }
            ]
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            "uniprot_canonical_ac": "P53128-1",
            "uniprot_ac": "P53128",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                }
            ],
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                {
                    "name": "Methylenetetrahydrofolate reductase 2",
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                    "name": "1.5.1.53",
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                {
                    "name": "YmL45",
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                },
                {
                    "name": "methylenetetrahydrofolate reductase (NAD(P)H) MET13",
                    "type": "synonym"
                }
            ],
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                    "name": "MET13",
                    "type": "recommended"
                },
                {
                    "name": "G2882",
                    "type": "synonym"
                },
                {
                    "name": "MET11",
                    "type": "synonym"
                },
                {
                    "name": "MET13",
                    "type": "synonym"
                },
                {
                    "name": "MRPL45",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111907",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111907"
                }
            ]
        },
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}