Rare Disease Library

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

Arthrogryposis-anterior horn cell disease syndrome

AAHD · Vuopala disease

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Huntington disease-like syndrome

Huntington disease phenocopy syndrome

Kallmann syndrome-heart disease syndrome

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Sickle cell disease

HbSS disease · SCD

Sickle cell S-C disease

Hemoglobin S-C disease · HbSC disease

Sickle cell S-D Punjab disease

HbSD disease · Hemoglobin S-D Punjab disease

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

Sickle cell S-Lepore disease

Hemoglobin S-Lepore disease · HbS-Lepore disease

Sickle cell S-O Arab disease

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

Sickle cell-beta-thalassemia disease

HbS-beta-thalassemia syndrome