{
    "disease_id": "DOID:0111053",
    "recommended_name": {
        "id": "DOID:0111053",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111053",
        "name": "platelet-type bleeding disorder 15",
        "description": "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q."
    },
    "synonyms": [
        {
            "id": "DOID:0111053",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111053",
            "name": "BDPLT15",
            "description": ""
        },
        {
            "id": "DOID:0111053",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111053",
            "name": "autosomal dominant macrothrombocytopenia ACTN1-related",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "platelet-type bleeding disorder 15",
            "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene."
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "ACTN1 inherited bleeding disorder, platelet-type",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "autosomal dominant macrothrombocytopenia ACTN1-related",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "BDPLT15",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "bleeding disorder, platelet-type, 15",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "bleeding disorder, platelet-type, 15; BDPLT15",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "macrothrombocytopenia, autosomal dominant, ACTN1-related",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "inherited bleeding disorder, platelet-type caused by mutation in ACTN1",
            "description": ""
        },
        {
            "id": "MIM:615193",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615193",
            "name": "Bleeding disorder, platelet-type, 15",
            "description": "Bleeding disorder, platelet-type, 15"
        }
    ]
}