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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 GATA1 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)
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