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Summary Literature (0)
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 GATA1 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


OMIM:
OMIM:300835 - ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES; XLANP

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): anemia (is_a)