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Ontology Browser
Term:
beta-thalassemia-X-linked thrombocytopenia syndrome (EFO:MONDO:0010745)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
beta thalassemia +  
beta-thalassemia-X-linked thrombocytopenia syndrome 
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.
delta-beta-thalassemia 
hemoglobin C-beta-thalassemia syndrome 
hemoglobin E-beta-thalassemia syndrome 
hemoglobin Lepore-beta-thalassemia syndrome 
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 
thrombocytopenia with congenital dyserythropoietic anemia 
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 

Synonyms
Exact Synonyms: XLTT ;   thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive
Related Synonyms: thrombocytopenia with BETA-thalassemia, X-linked ;   thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis
Alternate IDs: MONDO:0010745
Xrefs: DOID:0111767 ;   GARD:17166 ;   MEDGEN:326415 ;   MESH:C564050 ;   MIM:314050 ;   NCI:C134941 ;   ORDO:231393 ;   SCTID:718196002 ;   UMLS:C1839161 ;   icd11.foundation:905057212
Definition Sources: Orphanet:231393

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