{
    "disease_id": "DOID:0112156", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010444", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010444", 
            "name": "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010444", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010444", 
            "name": "anemia, X-linked, with or without neutropenia and/or platelet abnormalities; XLANP"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010444", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010444", 
            "name": "XLANP"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010444", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010444", 
            "name": "anemia, X-linked, with or without neutropenia and/or platelet abnormalities"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112156", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112156", 
            "name": "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112156", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112156", 
            "name": "X-linked anemia with/without neutropenia and/or platelet abnormalities"
        }, 
        {
            "url": "https://www.omim.org/entry/300835", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:300835", 
            "name": "Anemia without thrombocytopenia, X-linked"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112156", 
        "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 GATA1 on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112156", 
        "name": "X-linked dyserythropoietic anemia"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/300835", 
            "id": "300835", 
            "database": "MIM"
        }
    ]
}