{
    "disease_id": "DOID:0111059",
    "recommended_name": {
        "id": "DOID:0111059",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111059",
        "name": "Bernard-Soulier syndrome type A2",
        "description": "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p."
    },
    "synonyms": [
        {
            "id": "DOID:0111059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111059",
            "name": "BSSA2",
            "description": ""
        },
        {
            "id": "MONDO:0007930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007930",
            "name": "Bernard-Soulier syndrome, type A2, autosomal dominant",
            "description": "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p."
        },
        {
            "id": "MONDO:0007930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007930",
            "name": "BSSA2",
            "description": ""
        },
        {
            "id": "MONDO:0007930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007930",
            "name": "Bernard-Soulier syndrome, type A2 (dominant)",
            "description": ""
        },
        {
            "id": "MONDO:0007930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007930",
            "name": "Bernard-Soulier syndrome, type A2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:153670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/153670",
            "name": "Bernard-Soulier syndrome A2, autosomal dominant",
            "description": "Bernard-Soulier syndrome A2, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111059"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111059",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111059",
            "categories": []
        },
        {
            "id": "MONDO:0007930",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007930",
            "categories": []
        },
        {
            "id": "MIM:153670",
            "database": "MIM",
            "url": "https://www.omim.org/entry/153670",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35930-1",
            "uniprot_ac": "O35930",
            "uniprot_id": "GP1BA_MOUSE",
            "refseq_ac": "NP_001418327",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet glycoprotein Ib alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "GP-Ib alpha",
                    "type": "synonym"
                },
                {
                    "name": "GPIb-alpha",
                    "type": "synonym"
                },
                {
                    "name": "GPIbA",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein Ibalpha",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein Ibalpha",
                    "type": "synonym"
                },
                {
                    "name": "platelet glycoprotein Ib alpha chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "platelet glycoprotein Ib alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gp1ba",
                    "type": "recommended"
                },
                {
                    "name": "GP-Ib alpha",
                    "type": "synonym"
                },
                {
                    "name": "GPIbalpha",
                    "type": "synonym"
                },
                {
                    "name": "GPIba",
                    "type": "synonym"
                },
                {
                    "name": "Gp1ba",
                    "type": "synonym"
                }
            ],
            "record_id": "O35930-1",
            "evidence": [
                {
                    "id": "0111059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07359-1",
            "uniprot_ac": "P07359",
            "uniprot_id": "GP1BA_HUMAN",
            "refseq_ac": "NP_000164",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet glycoprotein Ib alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "Antigen CD42b-alpha",
                    "type": "synonym"
                },
                {
                    "name": "GP-Ib alpha",
                    "type": "synonym"
                },
                {
                    "name": "GPIb-alpha",
                    "type": "synonym"
                },
                {
                    "name": "GPIbA",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein Ibalpha",
                    "type": "synonym"
                },
                {
                    "name": "antigen CD42b-alpha",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein Ib (platelet), alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein Ib platelet alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "human platelet antigen 2",
                    "type": "synonym"
                },
                {
                    "name": "mutant platelet membrane glycoprotein Ib-alpha",
                    "type": "synonym"
                },
                {
                    "name": "platelet glycoprotein Ib alpha chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "platelet glycoprotein Ib alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "platelet membrane glycoprotein 1b-alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "platelet membrane glycoprotein Ib-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GP1BA",
                    "type": "recommended"
                },
                {
                    "name": "BDPLT1",
                    "type": "synonym"
                },
                {
                    "name": "BDPLT3",
                    "type": "synonym"
                },
                {
                    "name": "BSS",
                    "type": "synonym"
                },
                {
                    "name": "CD42B",
                    "type": "synonym"
                },
                {
                    "name": "CD42b-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DBPLT3",
                    "type": "synonym"
                },
                {
                    "name": "GP1BA",
                    "type": "synonym"
                },
                {
                    "name": "GP1B",
                    "type": "synonym"
                },
                {
                    "name": "GPIbA",
                    "type": "synonym"
                },
                {
                    "name": "GPIbalpha",
                    "type": "synonym"
                },
                {
                    "name": "HPA-2",
                    "type": "synonym"
                },
                {
                    "name": "VWDP",
                    "type": "synonym"
                }
            ],
            "record_id": "P07359-1",
            "evidence": [
                {
                    "id": "153670",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/153670"
                },
                {
                    "id": "0111059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZLF7-1",
            "uniprot_ac": "D3ZLF7",
            "uniprot_id": "D3ZLF7_RAT",
            "refseq_ac": "NP_001000367",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Olfactory receptor",
                    "type": "recommended"
                },
                {
                    "name": "olfactory receptor 752",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor Olr752",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor gene Olr752",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Or4g16",
                    "type": "recommended"
                },
                {
                    "name": "Olr752",
                    "type": "synonym"
                },
                {
                    "name": "Or4g16",
                    "type": "synonym"
                },
                {
                    "name": "ratchr3-96790713-96791645_ORF",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZLF7-1",
            "evidence": [
                {
                    "id": "0111059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M4I1-1",
            "uniprot_ac": "A0ABK0M4I1",
            "uniprot_id": "A0ABK0M4I1_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": "Platelet glycoprotein Ib alpha chain",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Gp1ba",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M4I1-1",
            "evidence": [
                {
                    "id": "0111059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111059"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111059"
}