{
    "disease_id": "DOID:0112174",
    "recommended_name": {
        "id": "DOID:0112174",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112174",
        "name": "combined deficiency of vitamin K-dependent clotting factors 2",
        "description": "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112174",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112174",
            "name": "VKCFD2",
            "description": ""
        },
        {
            "id": "MONDO:0011837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011837",
            "name": "vitamin K-dependent clotting factors, combined deficiency of, type 2",
            "description": "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene."
        },
        {
            "id": "MONDO:0011837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011837",
            "name": "VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011837",
            "name": "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1",
            "description": ""
        },
        {
            "id": "MONDO:0011837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011837",
            "name": "vitamin K-dependent clotting factors, combined deficiency of, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011837",
            "name": "vitamin K-dependent clotting factors, combined deficiency of, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011837",
            "name": "VKCFD2",
            "description": ""
        },
        {
            "id": "MIM:607473",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607473",
            "name": "Combined deficiency of vitamin K-dependent clotting factors 2",
            "description": "Combined deficiency of vitamin K-dependent clotting factors 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112174"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112174",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112174",
            "categories": []
        },
        {
            "id": "MONDO:0011837",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011837",
            "categories": []
        },
        {
            "id": "MIM:607473",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607473",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F6X2-1",
            "uniprot_ac": "E7F6X2",
            "uniprot_id": "E7F6X2_DANRE",
            "refseq_ac": "NP_001314861",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "vitamin-K-epoxide reductase (warfarin-sensitive)",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.4",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K epoxide reductase complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vkorc1",
                    "type": "recommended"
                },
                {
                    "name": "fc03a11",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-32n7.10",
                    "type": "synonym"
                },
                {
                    "name": "vkorc1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc03a11",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F6X2-1",
            "evidence": [
                {
                    "id": "0112174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CRC0-1",
            "uniprot_ac": "Q9CRC0",
            "uniprot_id": "VKOR1_MOUSE",
            "refseq_ac": "NP_848715",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K epoxide reductase complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.4",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin K1 2,3-epoxide reductase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "phylloquinone epoxide reductase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K 2,3-epoxide reductase complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K epoxide reductase complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K epoxide reductase subunit I",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K1 2,3-epoxide reductase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K1 epoxide reductase (warfarin-sensitive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vkorc1",
                    "type": "recommended"
                },
                {
                    "name": "D7Wsu86e",
                    "type": "synonym"
                },
                {
                    "name": "Vkorc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CRC0-1",
            "evidence": [
                {
                    "id": "0112174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BQB6-1",
            "uniprot_ac": "Q9BQB6",
            "uniprot_id": "VKOR1_HUMAN",
            "refseq_ac": "NP_001298240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K epoxide reductase complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.4",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin K1 2,3-epoxide reductase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "phylloquinone epoxide reductase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K dependent clotting factors deficiency 2",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K epoxide reductase complex subunit 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K1 2,3-epoxide reductase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K1 epoxide reductase (warfarin-sensitive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VKORC1",
                    "type": "recommended"
                },
                {
                    "name": "EDTP308",
                    "type": "synonym"
                },
                {
                    "name": "MST134",
                    "type": "synonym"
                },
                {
                    "name": "MST576",
                    "type": "synonym"
                },
                {
                    "name": "MSTP134",
                    "type": "synonym"
                },
                {
                    "name": "MSTP576",
                    "type": "synonym"
                },
                {
                    "name": "PRO351",
                    "type": "synonym"
                },
                {
                    "name": "VKCFD2",
                    "type": "synonym"
                },
                {
                    "name": "VKORC1",
                    "type": "synonym"
                },
                {
                    "name": "VKOR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BQB6-1",
            "evidence": [
                {
                    "id": "607473",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607473"
                },
                {
                    "id": "0112174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6TEK4-1",
            "uniprot_ac": "Q6TEK4",
            "uniprot_id": "VKOR1_RAT",
            "refseq_ac": "NP_976080",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K epoxide reductase complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.4",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin K1 2,3-epoxide reductase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Warfarin resistance",
                    "type": "synonym"
                },
                {
                    "name": "phylloquinone epoxide reductase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K epoxide reductase complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K1 2,3-epoxide reductase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K1 epoxide reductase (warfarin-sensitive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prss53",
                    "type": "recommended"
                },
                {
                    "name": "Vkorc1",
                    "type": "recommended"
                },
                {
                    "name": "Vkorc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6TEK4-1",
            "evidence": [
                {
                    "id": "0112174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAJ5-1",
            "uniprot_ac": "A1ZAJ5",
            "uniprot_id": "A1ZAJ5_DROME",
            "refseq_ac": "NP_001014533",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "vitamin-K-epoxide reductase (warfarin-sensitive)",
                    "type": "recommended"
                },
                {
                    "name": "1.17.4.4",
                    "type": "synonym"
                },
                {
                    "name": "CG33544-PA",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin-K epoxide reductase",
                    "type": "synonym"
                },
                {
                    "name": "Vkor-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vkor",
                    "type": "recommended"
                },
                {
                    "name": "BP1071",
                    "type": "synonym"
                },
                {
                    "name": "CG33544",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33544",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33544",
                    "type": "synonym"
                },
                {
                    "name": "HDC06808",
                    "type": "synonym"
                },
                {
                    "name": "VKORC1",
                    "type": "synonym"
                },
                {
                    "name": "Vkor",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAJ5-1",
            "evidence": [
                {
                    "id": "0112174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112174"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112174"
}