{
    "disease_id": "DOID:0090102",
    "recommended_name": {
        "id": "DOID:0090102",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090102",
        "name": "autosomal dominant macrothrombocytopenia TUBB1-related",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "macrothrombocytopenia, isolated, 1, autosomal dominant",
            "description": "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene."
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "MACTHC1",
            "description": ""
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "TUBB1 autosomal dominant macrothrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "autosomal dominant macrothrombocytopenia caused by mutation in TUBB1",
            "description": ""
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "macrothrombocytopenia, autosomal dominant, TUBB1-related",
            "description": ""
        },
        {
            "id": "MONDO:0800047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800047",
            "name": "autosomal dominant macrothrombocytopenia TUBB1-related",
            "description": ""
        },
        {
            "id": "MIM:613112",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613112",
            "name": "Macrothrombocytopenia, isolated, 1, autosomal dominant",
            "description": "Macrothrombocytopenia, isolated, 1, autosomal dominant"
        }
    ]
}