{
    "disease_id": "DOID:0111055",
    "recommended_name": {
        "id": "DOID:0111055",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111055",
        "name": "platelet-type bleeding disorder 20",
        "description": "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111055",
            "name": "BDPLT20",
            "description": ""
        },
        {
            "id": "DOID:0111055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111055",
            "name": "autosomal dominant thrombocytopenia with platelet secretion defect",
            "description": ""
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "platelet-type bleeding disorder 20",
            "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene."
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "BDPLT20",
            "description": ""
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "SLFN14 inherited bleeding disorder, platelet-type",
            "description": ""
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "autosomal dominant thrombocytopenia with platelet secretion defect",
            "description": ""
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "bleeding disorder, platelet-type, 20",
            "description": ""
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "inherited bleeding disorder, platelet-type caused by mutation in SLFN14",
            "description": ""
        },
        {
            "id": "MIM:616913",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616913",
            "name": "Bleeding disorder, platelet-type, 20",
            "description": "Bleeding disorder, platelet-type, 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111055"
    ],
    "unlinked_id_list": []
}