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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"
Sickle cell anemia
Homozygous hemoglobin S · Homozygous sickle cell anemia SS
Hemoglobin Bart's fetalis syndrome
Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major
Homozygous hemoglobin O Arab disease
Homozygous O Arab hemoglobinopathy
Sickle cell S-C disease
Hemoglobin S-C disease · HbSC disease
Sickle cell S-E disease
HbSE disease · Hemoglobin S-E disease