|OBO ID: DOID:0112156|
|Term Name:||X-linked dyserythropoietic anemia||Search 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. (2)|
|Ontology:||Human Disease (DOID:0112156)|
|is a type of:||
OTHER X-linked dyserythropoietic anemia PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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