| Metadata | |
|---|---|
| ID | DOID:0080770 |
| Name | autosomal dominant beta thalassemia |
| Definition | A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. https://pubmed.ncbi.nlm.nih.gov/1971109/ |
| Xrefs | |
| Synonyms |
inclusion body beta-thalassemia [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a beta thalassemia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |