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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C565834
OMIM:603902
Orphanet:231226
SCTID:716682000
UMLS:C1858990
UMLS:C4274391
MONDO:0011381
High level summary of knowledge for a disease, including descriptions and datasource references.