| Metadata | |
|---|---|
| ID | DOID:0080770 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080770 Copy |
| 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 |
SNOMEDCT_US_2026_03_01:716682000 |
| SKOS |
exactMatch UMLS_CUI:C1858990 exactMatch MIM:603902 exactMatch ORDO:231226 exactMatch MESH:C565834 exactMatch GARD:0017164 |
| 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 |