Metadata | |
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ID | DOID:0112156 |
Name | X-linked dyserythropoietic anemia |
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. https://pubmed.ncbi.nlm.nih.gov/16783379/, https://pubmed.ncbi.nlm.nih.gov/22706301/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
X-linked anemia with/without neutropenia and/or platelet abnormalities [EXACT] X-linked dyserythropoietic anemia with abnormal platelets and neutropenia [EXACT] |
Parent Relationships |
is_a anemia |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |