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"

7 matching diseasesClear search ×

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

ORPHA:93616

Alpha-thalassemia

ORPHA:846

Alpha-thalassemia and related disorders

ORPHA:275745

Beta-thalassemia

ORPHA:848

Beta-thalassemia intermedia

Non-transfusion dependent beta-thalassemia · Beta-NTDT

ORPHA:231222

Hemoglobin Bart's fetalis syndrome

Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major

ORPHA:163596

Thalassemia

ORPHA:707786