{
    "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": []
}