{
    "disease_id": "DOID:0111054",
    "recommended_name": {
        "id": "DOID:0111054",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111054",
        "name": "von Willebrand's disease 3",
        "description": "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111054",
            "name": "VWD type 3",
            "description": ""
        },
        {
            "id": "DOID:0111054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111054",
            "name": "VWD3",
            "description": ""
        },
        {
            "id": "DOID:0111054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111054",
            "name": "von Willebrand disease type 3",
            "description": ""
        },
        {
            "id": "DOID:0111054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111054",
            "name": "von Willebrand disease type III",
            "description": ""
        },
        {
            "id": "MONDO:0010191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010191",
            "name": "von Willebrand disease 3",
            "description": "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)."
        },
        {
            "id": "MONDO:0010191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010191",
            "name": "VWD3",
            "description": ""
        },
        {
            "id": "MONDO:0010191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010191",
            "name": "von Willebrand disease 3",
            "description": ""
        },
        {
            "id": "MONDO:0010191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010191",
            "name": "von Willebrand disease type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010191",
            "name": "von Willebrand's disease 3",
            "description": ""
        },
        {
            "id": "MONDO:0010191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010191",
            "name": "von Willebrand's disease type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010191",
            "name": "VON WILLEBRAND disease, type 3",
            "description": ""
        },
        {
            "id": "MIM:277480",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277480",
            "name": "von Willebrand disease 3",
            "description": "von Willebrand disease 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111054"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111054",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111054",
            "categories": []
        },
        {
            "id": "MONDO:0010191",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010191",
            "categories": []
        },
        {
            "id": "MIM:277480",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277480",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CIZ8-1",
            "uniprot_ac": "Q8CIZ8",
            "uniprot_id": "VWF_MOUSE",
            "refseq_ac": "NP_035838",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor",
                    "type": "recommended"
                },
                {
                    "name": "Von Willebrand factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "vWF",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand antigen II",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vwf",
                    "type": "recommended"
                },
                {
                    "name": "6820430P06Rik",
                    "type": "synonym"
                },
                {
                    "name": "B130011O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "C630030D09",
                    "type": "synonym"
                },
                {
                    "name": "F8VWF",
                    "type": "synonym"
                },
                {
                    "name": "VWD",
                    "type": "synonym"
                },
                {
                    "name": "Vwf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIZ8-1",
            "evidence": [
                {
                    "id": "0111054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04275-1",
            "uniprot_ac": "P04275",
            "uniprot_id": "VWF_HUMAN",
            "refseq_ac": "NP_000543",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor",
                    "type": "recommended"
                },
                {
                    "name": "Factor VIII related antigen",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor VIII VWF",
                    "type": "synonym"
                },
                {
                    "name": "vWF",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand antigen II",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VWF",
                    "type": "recommended"
                },
                {
                    "name": "F8VWF",
                    "type": "synonym"
                },
                {
                    "name": "VWD",
                    "type": "synonym"
                },
                {
                    "name": "VWF",
                    "type": "synonym"
                }
            ],
            "record_id": "P04275-1",
            "evidence": [
                {
                    "id": "277480",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/277480"
                },
                {
                    "id": "0111054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62935-1",
            "uniprot_ac": "Q62935",
            "uniprot_id": "VWF_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": "von Willebrand factor",
                    "type": "recommended"
                },
                {
                    "name": "vWF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vwf",
                    "type": "recommended"
                }
            ],
            "record_id": "Q62935-1",
            "evidence": [
                {
                    "id": "0111054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111054"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111054"
}