Rare Disease Library

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

Behçet disease

BENTA disease

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

Best vitelliform macular dystrophy

BMD · BVMD

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

Brain inflammatory disease

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Hailey-Hailey disease

Benign chronic familial pemphigus

IgA Nephropathy

Berger disease · Berger's disease

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Lafora disease

EPM2 · PME type 2

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Wilson disease

Hepatolenticular degeneration