{
    "disease_id": "DOID:0111050",
    "recommended_name": {
        "id": "DOID:0111050",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111050",
        "name": "Quebec platelet disorder",
        "description": "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0111050",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111050",
            "name": "BDPLT5",
            "description": ""
        },
        {
            "id": "DOID:0111050",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111050",
            "name": "factor V Quebec",
            "description": ""
        },
        {
            "id": "DOID:0111050",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111050",
            "name": "platelet-type bleeding disorder 5",
            "description": ""
        },
        {
            "id": "MONDO:0011136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011136",
            "name": "Quebec platelet disorder",
            "description": "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds."
        },
        {
            "id": "MONDO:0011136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011136",
            "name": "BDPLT5",
            "description": ""
        },
        {
            "id": "MONDO:0011136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011136",
            "name": "Quebec platelet disorder",
            "description": ""
        },
        {
            "id": "MONDO:0011136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011136",
            "name": "factor V Quebec",
            "description": ""
        },
        {
            "id": "MONDO:0011136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011136",
            "name": "QPD",
            "description": ""
        },
        {
            "id": "MIM:601709",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601709",
            "name": "Quebec platelet disorder",
            "description": "Quebec platelet disorder"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111050"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111050",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111050",
            "categories": []
        },
        {
            "id": "MONDO:0011136",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011136",
            "categories": []
        },
        {
            "id": "MIM:601709",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601709",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P06869-1",
            "uniprot_ac": "P06869",
            "uniprot_id": "UROK_MOUSE",
            "refseq_ac": "NP_032899",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Urokinase-type plasminogen activator",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.73",
                    "type": "synonym"
                },
                {
                    "name": "U-plasminogen activator",
                    "type": "synonym"
                },
                {
                    "name": "uPA",
                    "type": "synonym"
                },
                {
                    "name": "urokinase-type plasminogen activator precursor",
                    "type": "synonym"
                },
                {
                    "name": "urokinase-type plasminogen activator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plau",
                    "type": "recommended"
                },
                {
                    "name": "Plau",
                    "type": "synonym"
                },
                {
                    "name": "u-PA",
                    "type": "synonym"
                },
                {
                    "name": "uPA",
                    "type": "synonym"
                }
            ],
            "record_id": "P06869-1",
            "evidence": [
                {
                    "id": "0111050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00749-1",
            "uniprot_ac": "P00749",
            "uniprot_id": "UROK_HUMAN",
            "refseq_ac": "NP_001138503",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Urokinase-type plasminogen activator",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.73",
                    "type": "synonym"
                },
                {
                    "name": "U-plasminogen activator",
                    "type": "synonym"
                },
                {
                    "name": "Urokinase",
                    "type": "synonym"
                },
                {
                    "name": "plasminogen activator, urinary",
                    "type": "synonym"
                },
                {
                    "name": "uPA",
                    "type": "synonym"
                },
                {
                    "name": "urokinase-type plasminogen activator isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "urokinase-type plasminogen activator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLAU",
                    "type": "recommended"
                },
                {
                    "name": "ATF",
                    "type": "synonym"
                },
                {
                    "name": "BDPLT5",
                    "type": "synonym"
                },
                {
                    "name": "PLAU",
                    "type": "synonym"
                },
                {
                    "name": "QPD",
                    "type": "synonym"
                },
                {
                    "name": "UPA",
                    "type": "synonym"
                },
                {
                    "name": "URK",
                    "type": "synonym"
                },
                {
                    "name": "u-PA",
                    "type": "synonym"
                }
            ],
            "record_id": "P00749-1",
            "evidence": [
                {
                    "id": "601709",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601709"
                },
                {
                    "id": "0111050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29598-1",
            "uniprot_ac": "P29598",
            "uniprot_id": "UROK_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Urokinase-type plasminogen activator",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.73",
                    "type": "synonym"
                },
                {
                    "name": "U-plasminogen activator",
                    "type": "synonym"
                },
                {
                    "name": "uPA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plau",
                    "type": "recommended"
                }
            ],
            "record_id": "P29598-1",
            "evidence": [
                {
                    "id": "0111050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19622-1",
            "uniprot_ac": "P19622",
            "uniprot_id": "HME2_HUMAN",
            "refseq_ac": "NP_001418",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein engrailed-2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein en-2",
                    "type": "synonym"
                },
                {
                    "name": "Hu-En-2",
                    "type": "synonym"
                },
                {
                    "name": "engrailed homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "engrailed-2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein en-2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein engrailed-2",
                    "type": "synonym"
                },
                {
                    "name": "hu-En-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EN2",
                    "type": "recommended"
                },
                {
                    "name": "EN2",
                    "type": "synonym"
                }
            ],
            "record_id": "P19622-1",
            "evidence": [
                {
                    "id": "0111050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111050"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111050"
}