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"

5 matching diseasesClear search ×

Hemoglobin Bart's fetalis syndrome

Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major

ORPHA:163596

Alpha-thalassemia

ORPHA:846

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

ORPHA:93616

Sickle cell-beta zero-thalassemia

HbS-beta0 thalassemia · HbS-beta zero-thalassemia

ORPHA:695140

Thalassemia

ORPHA:707786