FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term X-linked thrombocytopenia with beta-thalassemia ID (Ontology) DOID:0111767 (Human Disease)
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.
Also Known As "beta-thalassemia-X-linked thrombocytopenia syndrome" ; "GATA1-related X-linked cytopenia" ; "thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 X-linked thrombocytopenia with beta-thalassemia       2
 for disease ribbon | X-linked thrombocytopenia with beta-thalassemia       2
 model of | X-linked thrombocytopenia with beta-thalassemia       2
Spanning Tree (Parents/Children)
Only view relationship: 
X-linked monogenic disease
 |__X-linked recessive disease____
disease of anatomical entity      |
 |__hematopoietic system disease__|
                                  X-linked thrombocytopenia with beta-thalassemia  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a X-linked recessive disease
hematopoietic system disease
Part of
hide Synonyms & Secondary IDs
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 OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C564050
MIM:314050
NCI:C134941
ORDO:231393
SNOMEDCT_US_2023_03_01:718196002
UMLS_CUI:C1839161