FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked dyserythropoietic anemia ID (Ontology) DOID:0112156 (Human Disease)
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.
Also Known As "X-linked anemia with/without neutropenia and/or platelet abnormalities" ; "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"
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 X-linked dyserythropoietic anemia       2
 for disease ribbon | X-linked dyserythropoietic anemia       2
 model of | X-linked dyserythropoietic anemia       2
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X-linked monogenic disease
 |__X-linked recessive disease__
hematopoietic system disease    |
 |__anemia______________________|
                                X-linked dyserythropoietic anemia  2 rec.
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Is a X-linked recessive disease
anemia
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Synonyms
  • "X-linked anemia with/without neutropenia and/or platelet abnormalities" EXACT
    "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia" EXACT
Secondary IDs
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MIM:300835
ORDO:363727