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Metadata
ID DOID:0111767
Name X-linked thrombocytopenia with beta-thalassemia
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.
https://www.ncbi.nlm.nih.gov/pubmed/18930124, https://www.ncbi.nlm.nih.gov/pubmed/22102271
Xrefs

MESH:C564050

NCI:C134941

OMIM:314050

ORDO:231393

UMLS_CUI:C1839161

Synonyms

beta-thalassemia-X-linked thrombocytopenia syndrome [EXACT]

GATA1-related X-linked cytopenia [EXACT]

thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [EXACT]

XLTT [EXACT]

Parent Relationships

is_a hematopoietic system disease

is_a X-linked recessive disease

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