OBO ID: DOID:0080770
Term Name: autosomal dominant beta thalassemia Search Ontology:
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:
Ontology: Human Disease   ( DOID:0080770 )
OTHER autosomal dominant beta thalassemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HBB Thalassemia-beta, dominant inclusion-body
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None