{
    "disease_id": "DOID:0060995",
    "recommended_name": {
        "id": "DOID:0060995",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060995",
        "name": "autosomal dominant isolated macrothrombocytopenia 2",
        "description": "A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "DOID:0060995",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060995",
            "name": "MACTHC2",
            "description": ""
        },
        {
            "id": "MONDO:0030827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030827",
            "name": "macrothrombocytopenia, isolated, 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0030827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030827",
            "name": "MACTHC2",
            "description": ""
        },
        {
            "id": "MONDO:0030827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030827",
            "name": "macrothrombocytopenia, isolated, 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:619840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619840",
            "name": "Macrothrombocytopenia, isolated, 2, autosomal dominant",
            "description": "Macrothrombocytopenia, isolated, 2, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060995"
    ],
    "unlinked_id_list": []
}