{
    "disease_id": "DOID:0111902",
    "recommended_name": {
        "id": "DOID:0111902",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111902",
        "name": "thrombophilia due to activated protein C resistance",
        "description": "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111902",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111902",
            "name": "APC resistance",
            "description": ""
        },
        {
            "id": "DOID:0111902",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111902",
            "name": "PCCF deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111902",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111902",
            "name": "PROC cofactor deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111902",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111902",
            "name": "THPH2",
            "description": ""
        },
        {
            "id": "DOID:0111902",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111902",
            "name": "activated protein C resistance",
            "description": ""
        },
        {
            "id": "DOID:0111902",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111902",
            "name": "thrombophilia V",
            "description": ""
        },
        {
            "id": "DOID:0111902",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111902",
            "name": "thrombophilia due to deficiency of activated protein C cofactor",
            "description": ""
        },
        {
            "id": "MONDO:0008560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008560",
            "name": "thrombophilia due to activated protein C resistance",
            "description": "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance."
        },
        {
            "id": "MONDO:0008560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008560",
            "name": "thrombophilia 2 due to activated protein C resistance",
            "description": ""
        },
        {
            "id": "MONDO:0008560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008560",
            "name": "thrombophilia due to activated protein C resistance",
            "description": ""
        },
        {
            "id": "MONDO:0008560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008560",
            "name": "APC resistance",
            "description": ""
        },
        {
            "id": "MONDO:0008560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008560",
            "name": "THPH2",
            "description": ""
        },
        {
            "id": "MONDO:0008560",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008560",
            "name": "resistance, APC",
            "description": ""
        },
        {
            "id": "MIM:188055",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/188055",
            "name": "Thrombophilia due to activated protein C resistance",
            "description": "Thrombophilia due to activated protein C resistance"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111902"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111902",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111902",
            "categories": []
        },
        {
            "id": "MONDO:0008560",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008560",
            "categories": []
        },
        {
            "id": "MIM:188055",
            "database": "MIM",
            "url": "https://www.omim.org/entry/188055",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O88783-1",
            "uniprot_ac": "O88783",
            "uniprot_id": "FA5_MOUSE",
            "refseq_ac": "NP_032002",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coagulation factor V",
                    "type": "recommended"
                },
                {
                    "name": "Activated protein C cofactor",
                    "type": "synonym"
                },
                {
                    "name": "activated protein C cofactor",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor V preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F5",
                    "type": "recommended"
                },
                {
                    "name": "Cf-5",
                    "type": "synonym"
                },
                {
                    "name": "Cf5",
                    "type": "synonym"
                },
                {
                    "name": "F5",
                    "type": "synonym"
                }
            ],
            "record_id": "O88783-1",
            "evidence": [
                {
                    "id": "0111902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111902"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33587-1",
            "uniprot_ac": "P33587",
            "uniprot_id": "PROC_MOUSE",
            "refseq_ac": "NP_001036232",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K-dependent protein C",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.69",
                    "type": "synonym"
                },
                {
                    "name": "Anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "Autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "Blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "inactivator of coagulation factors Va, VIII",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C isoform 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Proc",
                    "type": "recommended"
                },
                {
                    "name": "PC",
                    "type": "synonym"
                },
                {
                    "name": "Proc",
                    "type": "synonym"
                }
            ],
            "record_id": "P33587-1",
            "evidence": [
                {
                    "id": "0111902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111902"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12259-1",
            "uniprot_ac": "P12259",
            "uniprot_id": "FA5_HUMAN",
            "refseq_ac": "NP_000121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coagulation factor V",
                    "type": "recommended"
                },
                {
                    "name": "Activated protein C cofactor",
                    "type": "synonym"
                },
                {
                    "name": "Proaccelerin, labile factor",
                    "type": "synonym"
                },
                {
                    "name": "activated protein c cofactor",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor V (proaccelerin, labile factor)",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor V jinjiang A2 domain",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor V preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "factor V Leiden",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F5",
                    "type": "recommended"
                },
                {
                    "name": "F5",
                    "type": "synonym"
                },
                {
                    "name": "FVL",
                    "type": "synonym"
                },
                {
                    "name": "PCCF",
                    "type": "synonym"
                },
                {
                    "name": "RPRGL1",
                    "type": "synonym"
                },
                {
                    "name": "THPH2",
                    "type": "synonym"
                },
                {
                    "name": "fV",
                    "type": "synonym"
                }
            ],
            "record_id": "P12259-1",
            "evidence": [
                {
                    "id": "188055",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/188055"
                },
                {
                    "id": "0111902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111902"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K3W2-1",
            "uniprot_ac": "A0A0G2K3W2",
            "uniprot_id": "A0A0G2K3W2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coagulation factor V",
                    "type": "recommended"
                },
                {
                    "name": "Activated protein C cofactor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F5",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K3W2-1",
            "evidence": [
                {
                    "id": "0111902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111902"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31394-1",
            "uniprot_ac": "P31394",
            "uniprot_id": "PROC_RAT",
            "refseq_ac": "NP_036935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K-dependent protein C",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.69",
                    "type": "synonym"
                },
                {
                    "name": "Anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "Autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "Blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C precursor",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Proc",
                    "type": "recommended"
                },
                {
                    "name": "Proc",
                    "type": "synonym"
                }
            ],
            "record_id": "P31394-1",
            "evidence": [
                {
                    "id": "0111902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111902"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88350-1",
            "uniprot_ac": "O88350",
            "uniprot_id": "RBBP9_RAT",
            "refseq_ac": "NP_062092",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine hydrolase RBBP9",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "B5T-overexpressed gene protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein BOG",
                    "type": "synonym"
                },
                {
                    "name": "RBBP-9",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein 9",
                    "type": "synonym"
                },
                {
                    "name": "putative hydrolase RBBP9",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-binding protein 9",
                    "type": "synonym"
                },
                {
                    "name": "serine hydrolase RBBP9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbbp9",
                    "type": "recommended"
                },
                {
                    "name": "Bog",
                    "type": "synonym"
                },
                {
                    "name": "Rbbp9",
                    "type": "synonym"
                }
            ],
            "record_id": "O88350-1",
            "evidence": [
                {
                    "id": "0111902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111902"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04070-1",
            "uniprot_ac": "P04070",
            "uniprot_id": "PROC_HUMAN",
            "refseq_ac": "NP_000303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K-dependent protein C",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.69",
                    "type": "synonym"
                },
                {
                    "name": "Anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "Autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "Blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "Protein C-Nagoya",
                    "type": "synonym"
                },
                {
                    "name": "activated protein C",
                    "type": "synonym"
                },
                {
                    "name": "anticoagulant protein C",
                    "type": "synonym"
                },
                {
                    "name": "autoprothrombin IIA",
                    "type": "synonym"
                },
                {
                    "name": "blood coagulation factor XIV",
                    "type": "synonym"
                },
                {
                    "name": "prepro-protein C",
                    "type": "synonym"
                },
                {
                    "name": "type I protein C",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C isoform 10 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PROC",
                    "type": "recommended"
                },
                {
                    "name": "APC",
                    "type": "synonym"
                },
                {
                    "name": "PC",
                    "type": "synonym"
                },
                {
                    "name": "PROC1",
                    "type": "synonym"
                },
                {
                    "name": "PROC",
                    "type": "synonym"
                },
                {
                    "name": "THPH3",
                    "type": "synonym"
                },
                {
                    "name": "THPH4",
                    "type": "synonym"
                }
            ],
            "record_id": "P04070-1",
            "evidence": [
                {
                    "id": "0111902",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111902"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111902"
}