autosomal dominant beta thalassemia

Summary
Synonym
  • inclusion body beta-thalassemia
Definition
A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.
Super Class
autosomal dominant disease beta thalassemia
Disease Ontology
DOID:0080770
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3043 HBB hemoglobin subunit beta

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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