thrombocytopenia, X-linked, with or without dyserythropoietic anemia
An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.
MONDO:0100241
inherited thrombocytopenia
is_a
X-linked thrombocytopenia, with or without dyserythropoietic Anaemia
exact
X-linked thrombocytopenia, with or without dyserythropoietic Anemia
exact
XLTDA
related
thrombocytopenia, X-linked, with or without dyserythropoietic anemia
exact
thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive
exact