{
    "disease_id": "DOID:0111676",
    "recommended_name": {
        "id": "DOID:0111676",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111676",
        "name": "high molecular weight kininogen deficiency",
        "description": "A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0111676",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111676",
            "name": "Fitzgerald trait",
            "description": ""
        },
        {
            "id": "DOID:0111676",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111676",
            "name": "HMWK deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111676",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111676",
            "name": "congenital high-molecular-weight kininogen deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "congenital high-molecular-weight kininogen deficiency",
            "description": "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis."
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "high molecular weight kininogen deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "kininogen deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "Fitzgerald trait",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "Fitzgerald trait kininogen deficiency, total, included",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "Flaujeac factor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "Flaujeac trait, included",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "HMWK",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "HMWK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "Williams trait, included",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "high-molecular-weight kininogen deficiency, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "kininogen deficiency, high molecular weight",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "kininogen deficiency, high molecular weight and LOW molecular weight, included",
            "description": ""
        },
        {
            "id": "MONDO:0009234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "name": "kininogen deficiency, total",
            "description": ""
        },
        {
            "id": "MIM:228960",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228960",
            "name": "High molecular weight kininogen deficiency",
            "description": "High molecular weight kininogen deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111676"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111676",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111676",
            "categories": []
        },
        {
            "id": "MONDO:0009234",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009234",
            "categories": []
        },
        {
            "id": "MIM:228960",
            "database": "MIM",
            "url": "https://www.omim.org/entry/228960",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BIB3-1",
            "uniprot_ac": "A0A8M2BIB3",
            "uniprot_id": "A0A8M2BIB3_DANRE",
            "refseq_ac": "XP_005170607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kininogen-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "kininogen-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kng1",
                    "type": "recommended"
                },
                {
                    "name": "fb64g01",
                    "type": "synonym"
                },
                {
                    "name": "kng1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb64g01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103569",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BIB3-1",
            "evidence": [
                {
                    "id": "0111676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08677-1",
            "uniprot_ac": "O08677",
            "uniprot_id": "KNG1_MOUSE",
            "refseq_ac": "NP_001095881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kininogen-1",
                    "type": "recommended"
                },
                {
                    "name": "H-kininigen",
                    "type": "synonym"
                },
                {
                    "name": "L-kininogen",
                    "type": "synonym"
                },
                {
                    "name": "kininogen-1 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kng1",
                    "type": "recommended"
                },
                {
                    "name": "Kng1",
                    "type": "synonym"
                },
                {
                    "name": "Kng",
                    "type": "synonym"
                }
            ],
            "record_id": "O08677-1",
            "evidence": [
                {
                    "id": "0111676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01042-1",
            "uniprot_ac": "P01042",
            "uniprot_id": "KNG1_HUMAN",
            "refseq_ac": "NP_000884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kininogen-1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2-thiol proteinase inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "Fitzgerald factor",
                    "type": "synonym"
                },
                {
                    "name": "HMWK",
                    "type": "synonym"
                },
                {
                    "name": "High molecular weight kininogen",
                    "type": "synonym"
                },
                {
                    "name": "Ile-Ser-Bradykinin",
                    "type": "synonym"
                },
                {
                    "name": "Kallidin II",
                    "type": "synonym"
                },
                {
                    "name": "Kallidin I",
                    "type": "synonym"
                },
                {
                    "name": "Williams-Fitzgerald-Flaujeac factor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-thiol proteinase inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "bradykinin",
                    "type": "synonym"
                },
                {
                    "name": "fitzgerald factor",
                    "type": "synonym"
                },
                {
                    "name": "high molecular weight kininogen",
                    "type": "synonym"
                },
                {
                    "name": "kininogen-1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "williams-Fitzgerald-Flaujeac factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KNG1",
                    "type": "recommended"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "BK",
                    "type": "synonym"
                },
                {
                    "name": "HAE6",
                    "type": "synonym"
                },
                {
                    "name": "HK",
                    "type": "synonym"
                },
                {
                    "name": "HMWK",
                    "type": "synonym"
                },
                {
                    "name": "KNG1",
                    "type": "synonym"
                },
                {
                    "name": "KNG",
                    "type": "synonym"
                }
            ],
            "record_id": "P01042-1",
            "evidence": [
                {
                    "id": "228960",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/228960"
                },
                {
                    "id": "0111676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08932-1",
            "uniprot_ac": "P08932",
            "uniprot_id": "KNT2_RAT",
            "refseq_ac": "NP_001009628",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-kininogen 2",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1-MAP",
                    "type": "synonym"
                },
                {
                    "name": "Major acute phase protein",
                    "type": "synonym"
                },
                {
                    "name": "T-kininogen 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-kininogen 2",
                    "type": "synonym"
                },
                {
                    "name": "T-kininogen II heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "T-kininogen II light chain",
                    "type": "synonym"
                },
                {
                    "name": "T-kininogen II",
                    "type": "synonym"
                },
                {
                    "name": "Thiostatin",
                    "type": "synonym"
                },
                {
                    "name": "kininogen 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "low molecular weight (LMW) T-kininogen II",
                    "type": "synonym"
                },
                {
                    "name": "major acute phase protein (alpha-1-MAP)",
                    "type": "synonym"
                },
                {
                    "name": "thiostatin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kng1",
                    "type": "recommended"
                },
                {
                    "name": "Kng1l1",
                    "type": "synonym"
                },
                {
                    "name": "Kng1",
                    "type": "synonym"
                },
                {
                    "name": "Kng2",
                    "type": "synonym"
                },
                {
                    "name": "kininogen",
                    "type": "synonym"
                }
            ],
            "record_id": "P08932-1",
            "evidence": [
                {
                    "id": "0111676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08934-1",
            "uniprot_ac": "P08934",
            "uniprot_id": "KNG1_RAT",
            "refseq_ac": "NP_036873",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kininogen-1",
                    "type": "recommended"
                },
                {
                    "name": "K-kininogen",
                    "type": "synonym"
                },
                {
                    "name": "kininogen 2",
                    "type": "synonym"
                },
                {
                    "name": "kininogen-1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "kininogen-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kng1",
                    "type": "recommended"
                },
                {
                    "name": "Kng2l1",
                    "type": "recommended"
                },
                {
                    "name": "Kng2",
                    "type": "recommended"
                },
                {
                    "name": "KINKG",
                    "type": "synonym"
                },
                {
                    "name": "KINKH",
                    "type": "synonym"
                },
                {
                    "name": "Kng1",
                    "type": "synonym"
                },
                {
                    "name": "Kng2l1",
                    "type": "synonym"
                },
                {
                    "name": "Kng2",
                    "type": "synonym"
                },
                {
                    "name": "Kngk",
                    "type": "synonym"
                },
                {
                    "name": "Kng",
                    "type": "synonym"
                },
                {
                    "name": "kininogen",
                    "type": "synonym"
                }
            ],
            "record_id": "P08934-1",
            "evidence": [
                {
                    "id": "0111676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111676"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111676"
}