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"

17 matching diseasesClear search ×

Sickle cell-beta plus-thalassemia

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

ORPHA:695147

Alpha-thalassemia

ORPHA:846

Beta-thalassemia

ORPHA:848

Beta-thalassemia and related disorders

ORPHA:275749

Beta-thalassemia associated with another hemoglobin anomaly

Beta-thalassemia associated with another Hb anomaly

ORPHA:231230

Beta-thalassemia intermedia

Non-transfusion dependent beta-thalassemia · Beta-NTDT

ORPHA:231222

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

Hemoglobin Lepore-beta-thalassemia syndrome

HbLepore-beta-thalassemia syndrome · Lepore-beta-thalassemia syndrome

ORPHA:330032

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

HPFH-beta-thalassemia syndrome

ORPHA:46532

Sickle cell-beta zero-thalassemia

HbS-beta0 thalassemia · HbS-beta zero-thalassemia

ORPHA:695140

Sickle cell-beta-thalassemia disease

HbS-beta-thalassemia syndrome

ORPHA:251359

Syndromic beta-thalassemia

ORPHA:231386

Thalassemia

ORPHA:707786

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia

ORPHA:231226