X-Linked Dyserythropoietic Anemia
Disease ID: disease_node_17081
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| Dbxref | MIM:300835, ORDO:363727 |
|---|---|
| Subclassof | DOID_0080012, DOID_2355 |
| Data Source | DOID |
| Synonyms | X-linked anemia with/without neutropenia and/or platelet abnormalities, X-linked dyserythropoietic anemia with abnormal platelets and neutropenia |
| Doid Label | X-linked dyserythropoietic anemia |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_17081 |
| Doid Id | DOID_0112156 |
| Label | X-Linked Dyserythropoietic Anemia |
- Outgoing r'ship
SUBCLASS_OFto/from Anemia(ID:disease_node_1179) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)