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DOID:0111767 - X-linked thrombocytopenia with beta-thalassemia
Disease Ontology Definition:A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23.
Synonyms: GATA1-related X-linked cytopenia, XLTT, beta-thalassemia-X-linked thrombocytopenia syndrome, thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis,
Xenbase Genes
:
gata1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hematopoietic system disease (is_a)