OBO ID: DOID:0111767
Term Name: X-linked thrombocytopenia with beta-thalassemia Search Ontology:
Synonyms:
  • beta-thalassemia-X-linked thrombocytopenia syndrome
  • GATA1-related X-linked cytopenia
  • thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
  • XLTT
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)
References:
Ontology: Human Disease   ( DOID:0111767 )
Relationships
is a type of:
OTHER X-linked thrombocytopenia with beta-thalassemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GATA1 Thrombocytopenia with beta-thalassemia, X-linked 314050
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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