| Metadata | |
|---|---|
| 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 |