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"

16 matching diseasesClear search ×

Sickle cell S-Lepore disease

Hemoglobin S-Lepore disease · HbS-Lepore disease

ORPHA:699822

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

ORPHA:231401

Hemoglobin Bart's fetalis syndrome

Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major

ORPHA:163596

Hemoglobin C disease

HbCC disease

ORPHA:2132

Hemoglobin D disease

ORPHA:90039

Hemoglobin E disease

ORPHA:2133

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

ORPHA:93616

Hemoglobin Lepore-beta-thalassemia syndrome

HbLepore-beta-thalassemia syndrome · Lepore-beta-thalassemia syndrome

ORPHA:330032

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

ORPHA:330041

Homozygous hemoglobin O Arab disease

Homozygous O Arab hemoglobinopathy

ORPHA:700111

OBSOLETE: Unstable hemoglobin disease

ORPHA:99139

Sickle cell S-C disease

Hemoglobin S-C disease · HbSC disease

ORPHA:251365

Sickle cell S-D Punjab disease

HbSD disease · Hemoglobin S-D Punjab disease

ORPHA:251370

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

ORPHA:251375

Sickle cell S-O Arab disease

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

ORPHA:700090

Sickle cell S-other specified hemoglobin variant

HbS-other specified hemoglobin variant disease

ORPHA:700107