hereditary spherocytosis type 2

Summary
Synonym
  • HS2
  • SPH2
  • hereditary spherocytosis 2
Definition
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3.
Super Class
autosomal dominant disease hereditary spherocytosis
Disease Ontology
DOID:0110917
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6710 SPTB spectrin beta, erythrocytic

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024