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"

14 matching diseasesClear search ×

Hemoglobin Bart's fetalis syndrome

Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major

ORPHA:163596

Alpha-thalassemia

ORPHA:846

Alpha-thalassemia and related disorders

ORPHA:275745

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

ORPHA:231401

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

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

ORPHA:93616

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

Syndrome with alpha-thalassemia as a major feature

ORPHA:232288

Thalassemia

ORPHA:707786