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dominant beta-thalassemia

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.
Uniprot Description An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy.
Mondo Term and Equivalent IDs
MONDO:0011381:  dominant beta-thalassemia
MESH:C565834: 
Orphanet:231226: 
SCTID:716682000: 
UMLS:C1858990: 
UMLS:C4274391: