The portal for rare diseases and orphan drugs

Diseases list

• Disease-causing germline mutation(s) in Autosomal dominant secondary polycythemia ORPHA:247511
• Disease-causing germline mutation(s) in Beta-thalassemia intermedia ORPHA:231222
• Disease-causing germline mutation(s) in Beta-thalassemia major ORPHA:231214
• Disease-causing germline mutation(s) in Delta-beta-thalassemia ORPHA:231237
• Disease-causing germline mutation(s) in Dominant beta-thalassemia ORPHA:231226
• Disease-causing germline mutation(s) in Hemoglobin C-beta-thalassemia syndrome ORPHA:231242
• Disease-causing germline mutation(s) in Hemoglobin C disease ORPHA:2132
• Disease-causing germline mutation(s) in Hemoglobin D disease ORPHA:90039
• Disease-causing germline mutation(s) in Hemoglobin E-beta-thalassemia syndrome ORPHA:231249
• Disease-causing germline mutation(s) in Hemoglobin E disease ORPHA:2133
• Disease-causing germline mutation(s) in Hemoglobin M disease ORPHA:330041
• Disease-causing germline mutation(s) in Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome ORPHA:46532
• Disease-causing germline mutation(s) in Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome ORPHA:251380
• Disease-causing germline mutation(s) in Sickle cell anemia ORPHA:232
• Disease-causing germline mutation(s) in Sickle cell-beta-thalassemia disease syndrome ORPHA:251359
• Disease-causing germline mutation(s) in Sickle cell-hemoglobin C disease syndrome ORPHA:251365
• Disease-causing germline mutation(s) in Sickle cell-hemoglobin D disease syndrome ORPHA:251370
• Disease-causing germline mutation(s) in Sickle cell-hemoglobin E disease syndrome ORPHA:251375
• Part of a fusion gene in Hemoglobin Lepore-beta-thalassemia syndrome ORPHA:330032