{
    "disease_id": "DOID:0111767",
    "recommended_name": {
        "id": "DOID:0111767",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111767",
        "name": "X-linked thrombocytopenia with beta-thalassemia",
        "description": "A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0111767",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111767",
            "name": "beta-thalassemia-X-linked thrombocytopenia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111767",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111767",
            "name": "GATA1-related X-linked cytopenia",
            "description": ""
        },
        {
            "id": "DOID:0111767",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111767",
            "name": "XLTT",
            "description": ""
        },
        {
            "id": "DOID:0111767",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111767",
            "name": "thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis",
            "description": ""
        },
        {
            "id": "MONDO:0010745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010745",
            "name": "beta-thalassemia-X-linked thrombocytopenia syndrome",
            "description": "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia."
        },
        {
            "id": "MONDO:0010745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010745",
            "name": "X-linked thrombocytopenia with Beta-thalassemia",
            "description": ""
        },
        {
            "id": "MONDO:0010745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010745",
            "name": "XLTT",
            "description": ""
        },
        {
            "id": "MONDO:0010745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010745",
            "name": "thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010745",
            "name": "thrombocytopenia with BETA-thalassemia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010745",
            "name": "thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis",
            "description": ""
        },
        {
            "id": "MIM:314050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/314050",
            "name": "Thrombocytopenia with beta-thalassemia, X-linked",
            "description": "Thrombocytopenia with beta-thalassemia, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111767"
    ],
    "unlinked_id_list": []
}