OBO ID: DOID:0112156 |
Term Name: | X-linked dyserythropoietic anemia | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0112156 ) |
OTHER X-linked dyserythropoietic anemia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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