"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."^^ . "disease_ontology"^^ . "OMIM:300835"^^ . . "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"^^ . . "DOID:0112156"^^ . "X-linked dyserythropoietic anemia"^^ . _:vb50946199 . "ORDO:363727"^^ . _:vb50946199 . . _:vb50946199 . _:vb50946199 . _:vb50946199 . "X-linked anemia with/without neutropenia and/or platelet abnormalities"^^ . .