Term Name:	X-linked dyserythropoietic anemia
Synonyms:	X-linked anemia with/without neutropenia and/or platelet abnormalities, X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Definition:	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.
Ontology:	Human Disease [DOID:0112156]   ( DOID:0112156 )