Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Beta-thalassemia intermedia

Non-transfusion dependent beta-thalassemia · Beta-NTDT

ORPHA:231222

Beta-thalassemia

ORPHA:848

Beta-thalassemia major

Cooley anemia · Mediterranean anemia

ORPHA:231214

Delta-beta-thalassemia

ORPHA:231237

Hemoglobin C-beta-thalassemia syndrome

C-beta-thalassemia · HbC-beta-thalassemia syndrome

ORPHA:231242

Hemoglobin E-beta-thalassemia syndrome

E-beta-thalassemia · HbE-beta-thalassemia syndrome

ORPHA:231249

Sickle cell-beta plus-thalassemia

HbS-beta plus-thalassemia · HbS-beta+ thalassemia

ORPHA:695147

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia

ORPHA:231226