Rare Disease Library

Multiple osteochondromas

Bessel-Hagen disease · Multiple cartilaginous exostoses

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Behçet disease

BENTA disease

B-cell expansion with NF-kB and T-cell anergy disease

Best vitelliform macular dystrophy

BMD · BVMD

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Hailey-Hailey disease

Benign chronic familial pemphigus

Hartnup disease

Aminoaciduria, Hartnup type · Hartnup disorder

Hemoglobin C disease

HbCC disease

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

IgA Nephropathy

Berger disease · Berger's disease

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Sickle cell disease

HbSS disease · SCD

Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant

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