{
    "disease_id": "DOID:0090102", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013141", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013141", 
            "name": "TUBB1 autosomal dominant macrothrombocytopenia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013141", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013141", 
            "name": "autosomal dominant macrothrombocytopenia caused by mutation in TUBB1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013141", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013141", 
            "name": "macrothrombocytopenia, autosomal dominant, TUBB1-related"
        }, 
        {
            "url": "https://www.omim.org/entry/613112", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:613112", 
            "name": "Macrothrombocytopenia, autosomal dominant, TUBB1-related"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090102", 
        "description": "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090102", 
        "name": "autosomal dominant macrothrombocytopenia TUBB1-related"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/613112", 
            "id": "613112", 
            "database": "MIM"
        }
    ]
}