{
    "disease_id": "DOID:0112173",
    "recommended_name": {
        "id": "DOID:0112173",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112173",
        "name": "combined deficiency of vitamin K-dependent clotting factors 1",
        "description": "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112173",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112173",
            "name": "VKCFD1",
            "description": ""
        },
        {
            "id": "MONDO:0010187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010187",
            "name": "vitamin K-dependent clotting factors, combined deficiency of, type 1",
            "description": "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z."
        },
        {
            "id": "MONDO:0010187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010187",
            "name": "GGCX congenital vitamin K-dependent coagulation factors combined deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010187",
            "name": "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX",
            "description": ""
        },
        {
            "id": "MONDO:0010187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010187",
            "name": "hereditary combined deficiency of factors II, VII, IX and X",
            "description": ""
        },
        {
            "id": "MONDO:0010187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010187",
            "name": "vitamin K-dependent clotting factors, combined deficiency of, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010187",
            "name": "VKCFD1",
            "description": ""
        },
        {
            "id": "MONDO:0010187",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010187",
            "name": "vitamin K-dependent clotting factors, combined deficiency of, 1",
            "description": ""
        },
        {
            "id": "MIM:277450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277450",
            "name": "Combined deficiency of vitamin K-dependent clotting factors 1",
            "description": "Combined deficiency of vitamin K-dependent clotting factors 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112173"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112173",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112173",
            "categories": []
        },
        {
            "id": "MONDO:0010187",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010187",
            "categories": []
        },
        {
            "id": "MIM:277450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RIV5-1",
            "uniprot_ac": "A0A8M1RIV5",
            "uniprot_id": "A0A8M1RIV5_DANRE",
            "refseq_ac": "XP_003199339",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K-dependent gamma-carboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.90",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyl carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "Peptidyl-glutamate 4-carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin K gamma glutamyl carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent gamma-carboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ggcx",
                    "type": "recommended"
                },
                {
                    "name": "ggcx",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RIV5-1",
            "evidence": [
                {
                    "id": "0112173",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112173"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYC7-1",
            "uniprot_ac": "Q9QYC7",
            "uniprot_id": "VKGC_MOUSE",
            "refseq_ac": "NP_062776",
            "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 gamma-carboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.90",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyl carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "Peptidyl-glutamate 4-carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "VKGC",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin K gamma glutamyl carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-glutamate 4-carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K gamma glutamyl carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent gamma-carboxylase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent gamma-carboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ggcx",
                    "type": "recommended"
                },
                {
                    "name": "Ggcx",
                    "type": "synonym"
                },
                {
                    "name": "VKGC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYC7-1",
            "evidence": [
                {
                    "id": "0112173",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112173"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38435-1",
            "uniprot_ac": "P38435",
            "uniprot_id": "VKGC_HUMAN",
            "refseq_ac": "NP_000812",
            "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 gamma-carboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.90",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyl carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "Peptidyl-glutamate 4-carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "VKGC",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin K gamma glutamyl carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-glutamate 4-carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent gamma-carboxylase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent gamma-carboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GGCX",
                    "type": "recommended"
                },
                {
                    "name": "GC",
                    "type": "synonym"
                },
                {
                    "name": "GGCX",
                    "type": "synonym"
                },
                {
                    "name": "VKCFD1",
                    "type": "synonym"
                },
                {
                    "name": "VKGC",
                    "type": "synonym"
                }
            ],
            "record_id": "P38435-1",
            "evidence": [
                {
                    "id": "277450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/277450"
                },
                {
                    "id": "0112173",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112173"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88496-1",
            "uniprot_ac": "O88496",
            "uniprot_id": "VKGC_RAT",
            "refseq_ac": "NP_113944",
            "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 gamma-carboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.90",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyl carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "Peptidyl-glutamate 4-carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "VKGC",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin K gamma glutamyl carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-glutamate 4-carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K gamma glutamyl carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent gamma-carboxylase",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent gamma-glutamyl carboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ggcx",
                    "type": "recommended"
                },
                {
                    "name": "Ggcx",
                    "type": "synonym"
                },
                {
                    "name": "VKGC",
                    "type": "synonym"
                }
            ],
            "record_id": "O88496-1",
            "evidence": [
                {
                    "id": "0112173",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112173"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0C4-1",
            "uniprot_ac": "Q9W0C4",
            "uniprot_id": "Q9W0C4_DROME",
            "refseq_ac": "NP_001163323",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "4.1.1.90",
                    "type": "synonym"
                },
                {
                    "name": "CG13927-PB",
                    "type": "synonym"
                },
                {
                    "name": "GC-PB",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyl carboxylase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyl carboxylase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamyl carboxylase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamyl-carboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GC",
                    "type": "recommended"
                },
                {
                    "name": "CG13927",
                    "type": "synonym"
                },
                {
                    "name": "DgammaC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13927",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13927",
                    "type": "synonym"
                },
                {
                    "name": "GC",
                    "type": "synonym"
                },
                {
                    "name": "dGC",
                    "type": "synonym"
                },
                {
                    "name": "dgammaC",
                    "type": "synonym"
                },
                {
                    "name": "gammaC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0C4-1",
            "evidence": [
                {
                    "id": "0112173",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112173"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112173"
}