| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions. (Orphanet Rare Disease Ontology, Orphanet_231214) |
| External Link | http://www.ncbi.nlm.nih.gov/medgen/?term=C0599528 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Beta thalassemia major phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| HBB | hemoglobin, beta |
