{
    "disease_id": "DOID:0060692",
    "recommended_name": {
        "id": "DOID:0060692",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060692",
        "name": "platelet-type bleeding disorder 8",
        "description": "A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q."
    },
    "synonyms": [
        {
            "id": "DOID:0060692",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060692",
            "name": "ADP platelet receptor P2Y12 defect",
            "description": ""
        },
        {
            "id": "DOID:0060692",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060692",
            "name": "P2Y12 defect",
            "description": ""
        },
        {
            "id": "MONDO:0012354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012354",
            "name": "platelet-type bleeding disorder 8",
            "description": "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate."
        },
        {
            "id": "MONDO:0012354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012354",
            "name": "platelet-type bleeding disorder 8",
            "description": ""
        },
        {
            "id": "MONDO:0012354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012354",
            "name": "BDPLT8",
            "description": ""
        },
        {
            "id": "MONDO:0012354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012354",
            "name": "bleeding disorder, platelet-type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012354",
            "name": "bleeding disorder, platelet-type, 8",
            "description": ""
        },
        {
            "id": "MIM:609821",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609821",
            "name": "Bleeding disorder, platelet-type, 8",
            "description": "Bleeding disorder, platelet-type, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060692"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060692",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060692",
            "categories": []
        },
        {
            "id": "MONDO:0012354",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012354",
            "categories": []
        },
        {
            "id": "MIM:609821",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609821",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1QLI4-1",
            "uniprot_ac": "A0A8M1QLI4",
            "uniprot_id": "A0A8M1QLI4_DANRE",
            "refseq_ac": "NP_001429033",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "P2Y purinoceptor 12 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "P2Y purinoceptor 12",
                    "type": "synonym"
                },
                {
                    "name": "purinergic receptor P2Y, G-protein coupled, 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "p2ry12",
                    "type": "recommended"
                },
                {
                    "name": "p2ry12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1QLI4-1",
            "evidence": [
                {
                    "id": "0060692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CPV9-1",
            "uniprot_ac": "Q9CPV9",
            "uniprot_id": "P2Y12_MOUSE",
            "refseq_ac": "NP_081847",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "P2Y purinoceptor 12",
                    "type": "recommended"
                },
                {
                    "name": "P2Y purinoceptor 12",
                    "type": "synonym"
                },
                {
                    "name": "P2Y12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P2ry12",
                    "type": "recommended"
                },
                {
                    "name": "2900079B22Rik",
                    "type": "synonym"
                },
                {
                    "name": "4921504D23Rik",
                    "type": "synonym"
                },
                {
                    "name": "P2Y12",
                    "type": "synonym"
                },
                {
                    "name": "P2ry12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CPV9-1",
            "evidence": [
                {
                    "id": "0060692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H244-1",
            "uniprot_ac": "Q9H244",
            "uniprot_id": "P2Y12_HUMAN",
            "refseq_ac": "NP_073625",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "P2Y purinoceptor 12",
                    "type": "recommended"
                },
                {
                    "name": "ADP-glucose receptor",
                    "type": "synonym"
                },
                {
                    "name": "ADPG-R",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor SP1999",
                    "type": "synonym"
                },
                {
                    "name": "Gi-coupled ADP receptor HORK3",
                    "type": "synonym"
                },
                {
                    "name": "P2T(AC)",
                    "type": "synonym"
                },
                {
                    "name": "P2Y purinoceptor 12",
                    "type": "synonym"
                },
                {
                    "name": "P2Y(AC)",
                    "type": "synonym"
                },
                {
                    "name": "P2Y(ADP)",
                    "type": "synonym"
                },
                {
                    "name": "P2Y(cyc)",
                    "type": "synonym"
                },
                {
                    "name": "P2Y12 platelet ADP receptor",
                    "type": "synonym"
                },
                {
                    "name": "P2Y12",
                    "type": "synonym"
                },
                {
                    "name": "SP1999",
                    "type": "synonym"
                },
                {
                    "name": "purinergic receptor P2RY12",
                    "type": "synonym"
                },
                {
                    "name": "purinergic receptor P2Y, G-protein coupled, 12",
                    "type": "synonym"
                },
                {
                    "name": "putative G-protein coupled receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P2RY12",
                    "type": "recommended"
                },
                {
                    "name": "ADPG-R",
                    "type": "synonym"
                },
                {
                    "name": "BDPLT8",
                    "type": "synonym"
                },
                {
                    "name": "HORK3",
                    "type": "synonym"
                },
                {
                    "name": "P2RY12",
                    "type": "synonym"
                },
                {
                    "name": "P2T(AC)",
                    "type": "synonym"
                },
                {
                    "name": "P2Y(12)R",
                    "type": "synonym"
                },
                {
                    "name": "P2Y(AC)",
                    "type": "synonym"
                },
                {
                    "name": "P2Y(ADP)",
                    "type": "synonym"
                },
                {
                    "name": "P2Y(cyc)",
                    "type": "synonym"
                },
                {
                    "name": "P2Y12",
                    "type": "synonym"
                },
                {
                    "name": "SP1999",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H244-1",
            "evidence": [
                {
                    "id": "609821",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609821"
                },
                {
                    "id": "0060692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPX4-1",
            "uniprot_ac": "Q9EPX4",
            "uniprot_id": "P2Y12_RAT",
            "refseq_ac": "NP_073637",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "P2Y purinoceptor 12",
                    "type": "recommended"
                },
                {
                    "name": "P2Y purinoceptor 12",
                    "type": "synonym"
                },
                {
                    "name": "P2Y12 platelet ADP receptor",
                    "type": "synonym"
                },
                {
                    "name": "P2Y12",
                    "type": "synonym"
                },
                {
                    "name": "purinergic receptor P2Y, G-protein coupled, 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P2ry12",
                    "type": "recommended"
                },
                {
                    "name": "P2ry12",
                    "type": "synonym"
                },
                {
                    "name": "P2y12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPX4-1",
            "evidence": [
                {
                    "id": "0060692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060692"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060692"
}