{
    "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": []
}