|OBO ID: DOID:0111767|
|Term Name:||X-linked thrombocytopenia with beta-thalassemia||Search 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 GATA1 on chromosome Xp11.23. (2)|
|Ontology:||Human Disease (DOID:0111767)|
|is a type of:||
OTHER X-linked thrombocytopenia with beta-thalassemia PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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