autosomal dominant beta thalassemia

Term ID

DOID:0080770

Synonyms

• 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. https://pubmed.ncbi.nlm.nih.gov/1971109/

References

• OMIM:603902

Ontology

Human Disease   ( DOID:0080770 )