{
    "disease_id": "DOID:0111048",
    "recommended_name": {
        "id": "DOID:0111048",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111048",
        "name": "platelet-type bleeding disorder 19",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111048",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111048",
            "name": "BDPLT19",
            "description": ""
        },
        {
            "id": "DOID:0111048",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111048",
            "name": "severe autosomal recessive macrothrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "platelet-type bleeding disorder 19",
            "description": "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene."
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "BDPLT19",
            "description": ""
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "PRKACG isolated hereditary giant platelet disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "isolated hereditary giant platelet disorder caused by mutation in PRKACG",
            "description": ""
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "severe autosomal recessive macrothrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0014518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014518",
            "name": "bleeding disorder, platelet-type, 19",
            "description": ""
        },
        {
            "id": "MIM:616176",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616176",
            "name": "Bleeding disorder, platelet-type, 19",
            "description": "Bleeding disorder, platelet-type, 19"
        }
    ]
}