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"

6 matching diseasesClear search ×

Homozygous hemoglobin O Arab disease

Homozygous O Arab hemoglobinopathy

ORPHA:700111

Genetic hemoglobinopathy

ORPHA:466066

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

ORPHA:330041

Hemoglobinopathy

ORPHA:68364

Sickle cell anemia

Homozygous hemoglobin S · Homozygous sickle cell anemia SS

ORPHA:232

Sickle cell S-O Arab disease

Hemoglobin S-O Arab disease · HbS-O Arab disease

ORPHA:700090