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beta-thalassemia-X-linked thrombocytopenia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.
Uniprot Description An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor.
Mondo Term and Equivalent IDs
MONDO:0010745:  beta-thalassemia-X-linked thrombocytopenia syndrome
DOID:0111767: 
MESH:C564050: 
NCIT:C134941: 
Orphanet:231393: 
SCTID:718196002: 
UMLS:C1839161: