{
    "disease_id": "DOID:0111048", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014518", 
            "name": "severe autosomal recessive macrothrombocytopenia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014518", 
            "name": "PRKACG isolated hereditary giant platelet disorder"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014518", 
            "name": "bleeding disorder, platelet-type, 19; BDPLT19"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014518", 
            "name": "isolated hereditary giant platelet disorder caused by mutation in PRKACG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014518", 
            "name": "bleeding disorder, platelet-type, 19"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014518", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014518", 
            "name": "BDPLT19"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111048", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111048", 
            "name": "BDPLT19"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111048", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111048", 
            "name": "severe autosomal recessive macrothrombocytopenia"
        }, 
        {
            "url": "https://www.omim.org/entry/616176", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616176", 
            "name": "Bleeding disorder, platelet-type 19"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111048", 
        "description": "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111048", 
        "name": "platelet-type bleeding disorder 19"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616176", 
            "id": "616176", 
            "database": "MIM"
        }
    ]
}
