OBO ID: DOID:0111767 |
Term Name: | X-linked thrombocytopenia with beta-thalassemia | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0111767 ) |
OTHER X-linked thrombocytopenia with beta-thalassemia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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