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hereditary spherocytosis type 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.
Uniprot Description An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity.
Disease Ontology Description A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTB on chromosome 14q23.3.