{
    "disease_id": "DOID:0111049",
    "recommended_name": {
        "id": "DOID:0111049",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111049",
        "name": "platelet-type bleeding disorder 17",
        "description": "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0111049",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111049",
            "name": "BDPLT17",
            "description": ""
        },
        {
            "id": "DOID:0111049",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111049",
            "name": "hereditary thrombasthenia-thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0008553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008553",
            "name": "platelet-type bleeding disorder 17",
            "description": "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function."
        },
        {
            "id": "MONDO:0008553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008553",
            "name": "BDPLT17",
            "description": ""
        },
        {
            "id": "MONDO:0008553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008553",
            "name": "GFI1B inherited bleeding disorder, platelet-type",
            "description": ""
        },
        {
            "id": "MONDO:0008553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008553",
            "name": "bleeding disorder, platelet-type 17",
            "description": ""
        },
        {
            "id": "MONDO:0008553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008553",
            "name": "inherited bleeding disorder, platelet-type caused by mutation in GFI1B",
            "description": ""
        },
        {
            "id": "MONDO:0008553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008553",
            "name": "platelet-type bleeding disorder 17",
            "description": ""
        },
        {
            "id": "MONDO:0008553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008553",
            "name": "bleeding disorder, platelet-type, 17",
            "description": ""
        },
        {
            "id": "MIM:187900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/187900",
            "name": "Bleeding disorder, platelet-type, 17",
            "description": "Bleeding disorder, platelet-type, 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111049"
    ],
    "unlinked_id_list": []
}