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DOID:0112156 - X-linked dyserythropoietic anemia
Disease Ontology 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.
Synonyms: X-linked anemia with/without neutropenia and/or platelet abnormalities, X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Xenbase Genes
:
gata1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
anemia (is_a)