{
    "disease_id": "DOID:0112156",
    "recommended_name": {
        "id": "DOID:0112156",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112156",
        "name": "X-linked dyserythropoietic anemia",
        "description": "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen."
    },
    "synonyms": [
        {
            "id": "DOID:0112156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112156",
            "name": "X-linked anemia with/without neutropenia and/or platelet abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0112156",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112156",
            "name": "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0010444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010444",
            "name": "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0010444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010444",
            "name": "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010444",
            "name": "XLANP",
            "description": ""
        },
        {
            "id": "MONDO:0010444",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010444",
            "name": "anemia, X-linked, with or without neutropenia and/or platelet abnormalities",
            "description": ""
        },
        {
            "id": "MIM:300835",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300835",
            "name": "Anemia without thrombocytopenia, X-linked",
            "description": "Anemia without thrombocytopenia, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112156"
    ],
    "unlinked_id_list": []
}