OBO ID: DOID:0112156
Term Name: X-linked dyserythropoietic anemia Search Ontology:
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 X-linked dyserythropoietic anemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GATA1 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.