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"

16 matching diseasesClear search ×

Hemoglobin Lepore-beta-thalassemia syndrome

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

ORPHA:330032

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

ORPHA:231401

Beta-thalassemia

ORPHA:848

Beta-thalassemia intermedia

Non-transfusion dependent beta-thalassemia · Beta-NTDT

ORPHA:231222

Beta-thalassemia major

Cooley anemia · Mediterranean anemia

ORPHA:231214

Beta-thalassemia-trichothiodystrophy syndrome

ORPHA:231256

Beta-thalassemia-X-linked thrombocytopenia syndrome

XLTT

ORPHA:231393

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

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

HPFH-beta-thalassemia syndrome

ORPHA:46532

Sickle cell-beta plus-thalassemia

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

ORPHA:695147

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

Syndrome with alpha-thalassemia as a major feature

ORPHA:232288

Syndromic beta-thalassemia

ORPHA:231386