{
    "disease_id": "DOID:0111057",
    "recommended_name": {
        "id": "DOID:0111057",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111057",
        "name": "platelet-type bleeding disorder 11",
        "description": "A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111057",
            "name": "BDPLT11",
            "description": ""
        },
        {
            "id": "DOID:0111057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111057",
            "name": "GP VI deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111057",
            "name": "glycoprotein VI deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013623",
            "name": "platelet-type bleeding disorder 11",
            "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene."
        },
        {
            "id": "MONDO:0013623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013623",
            "name": "BDPLT11",
            "description": ""
        },
        {
            "id": "MONDO:0013623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013623",
            "name": "GP6 inherited bleeding disorder, platelet-type",
            "description": ""
        },
        {
            "id": "MONDO:0013623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013623",
            "name": "inherited bleeding disorder, platelet-type caused by mutation in GP6",
            "description": ""
        },
        {
            "id": "MONDO:0013623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013623",
            "name": "platelet-type bleeding disorder 11",
            "description": ""
        },
        {
            "id": "MONDO:0013623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013623",
            "name": "bleeding disorder, platelet-type, 11",
            "description": ""
        },
        {
            "id": "MONDO:0013623",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013623",
            "name": "platelet-type bleeding disorder-11",
            "description": ""
        },
        {
            "id": "MIM:614201",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614201",
            "name": "Bleeding disorder, platelet-type, 11",
            "description": "Bleeding disorder, platelet-type, 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111057"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111057",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111057",
            "categories": []
        },
        {
            "id": "MONDO:0013623",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013623",
            "categories": []
        },
        {
            "id": "MIM:614201",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614201",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0C191-1",
            "uniprot_ac": "P0C191",
            "uniprot_id": "GPVI_MOUSE",
            "refseq_ac": "NP_001156486",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet glycoprotein VI",
                    "type": "recommended"
                },
                {
                    "name": "GPVI",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein 5",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 5",
                    "type": "synonym"
                },
                {
                    "name": "platelet glycoprotein VI precursor",
                    "type": "synonym"
                },
                {
                    "name": "platelet glycoprotein VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gp6",
                    "type": "recommended"
                },
                {
                    "name": "9830166G18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm469",
                    "type": "synonym"
                },
                {
                    "name": "Gp6",
                    "type": "synonym"
                },
                {
                    "name": "Gpvi",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C191-1",
            "evidence": [
                {
                    "id": "0111057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HCN6-1",
            "uniprot_ac": "Q9HCN6",
            "uniprot_id": "GPVI_HUMAN",
            "refseq_ac": "NP_001077368",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet glycoprotein VI",
                    "type": "recommended"
                },
                {
                    "name": "GPVI",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein 6",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 6",
                    "type": "synonym"
                },
                {
                    "name": "platelet collagen receptor",
                    "type": "synonym"
                },
                {
                    "name": "platelet glycoprotein VI isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GP6",
                    "type": "recommended"
                },
                {
                    "name": "BDPLT11",
                    "type": "synonym"
                },
                {
                    "name": "GP6",
                    "type": "synonym"
                },
                {
                    "name": "GPIV",
                    "type": "synonym"
                },
                {
                    "name": "GPVI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HCN6-1",
            "evidence": [
                {
                    "id": "614201",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614201"
                },
                {
                    "id": "0111057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R8A3-1",
            "uniprot_ac": "M0R8A3",
            "uniprot_id": "M0R8A3_RAT",
            "refseq_ac": "NP_001425624",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycoprotein VI",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 6 (platelet)",
                    "type": "synonym"
                },
                {
                    "name": "platelet glycoprotein VI isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "platelet glycoprotein VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gp6",
                    "type": "recommended"
                },
                {
                    "name": "Gp6",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R8A3-1",
            "evidence": [
                {
                    "id": "0111057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111057"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111057"
}
