{
    "disease_id": "DOID:2217",
    "recommended_name": {
        "id": "DOID:2217",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:2217",
        "name": "Bernard-Soulier syndrome",
        "description": "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib."
    },
    "synonyms": [
        {
            "id": "DOID:2217",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2217",
            "name": "Bernard - Soulier thrombopathy",
            "description": ""
        },
        {
            "id": "DOID:2217",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2217",
            "name": "Bernard Soulier syndrome",
            "description": ""
        },
        {
            "id": "DOID:2217",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2217",
            "name": "Giant platelet syndrome",
            "description": ""
        },
        {
            "id": "DOID:2217",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2217",
            "name": "Hemorrhagic dystrophic thrombocytopenia",
            "description": ""
        },
        {
            "id": "DOID:2217",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:2217",
            "name": "Thrombopathy, Bernard-Soulier",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Bernard-Soulier syndrome",
            "description": "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination."
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Hemorrhagiparous thrombocytic dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "giant platelet disease",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Bernard-Soulier syndrome, type C",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "macrothrombocytopenia, familial Bernard-Soulier type",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Bernard-Soulier syndrome, type B",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "bleeding disorder, Platelet-type, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Bernard-Soulier syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Bernard-Soulier syndrome; BSS",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Platelet glycoprotein 1b, deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "giant platelet syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "deficiency of platelet glycoprotein 1b",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "thrombopathy, Bernard-Soulier",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "hemorrhagic dystrophic thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Bernard Soulier syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Platelet glycoprotein Ib deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Von Willebrand Factor receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "BSS",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Bernard - Soulier thrombopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "glycoprotein Ib, Platelet, deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0009276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009276",
            "name": "Bernard-Soulier syndrome, type A1",
            "description": ""
        },
        {
            "id": "MIM:231200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231200",
            "name": "Bernard-Soulier syndrome",
            "description": "Bernard-Soulier syndrome"
        }
    ]
}