{
    "disease_id": "DOID:0111059",
    "recommended_name": {
        "id": "DOID:0111059",
        "resource": "Disease Ontology",
        "url": "http://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": "http://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": "Bernard-Soulier syndrome, type A2, autosomal dominant",
            "description": ""
        },
        {
            "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, autosomal dominant; BSSA2",
            "description": ""
        },
        {
            "id": "MONDO:0007930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007930",
            "name": "Bernard-Soulier syndrome type A2",
            "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"
        }
    ]
}