{
    "disease_id": "DOID:0111053", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014078", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014078", 
            "name": "ACTN1 inherited bleeding disorder, platelet-type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014078", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014078", 
            "name": "autosomal dominant macrothrombocytopenia ACTN1-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014078", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014078", 
            "name": "BDPLT15"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014078", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014078", 
            "name": "bleeding disorder, platelet-type, 15"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014078", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014078", 
            "name": "bleeding disorder, platelet-type, 15; BDPLT15"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014078", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014078", 
            "name": "macrothrombocytopenia, autosomal dominant, ACTN1-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014078", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014078", 
            "name": "inherited bleeding disorder, platelet-type caused by mutation in ACTN1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111053", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111053", 
            "name": "BDPLT15"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111053", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111053", 
            "name": "autosomal dominant macrothrombocytopenia ACTN1-related"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111053", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111053", 
        "name": "platelet-type bleeding disorder 15"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111053#disease-associations", 
            "id": "0111053", 
            "database": "Alliance of Genome Resources"
        }
    ]
}