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GATA1-Related X-Linked Cytopenia

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.
Mondo Term and Equivalent IDs
MONDO:0100089:  GATA1-Related X-Linked Cytopenia