Search Ontology:
Human Disease

X-linked dyserythropoietic anemia

Term ID
DOID:0112156
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. (2)
References
Ontology
Human Disease   ( DOID:0112156 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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