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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.
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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110917
OMIM:616649
UMLS:C2674219
MONDO:0000913
High level summary of knowledge for a disease, including descriptions and datasource references.