Rare Disease Library

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Bronspiegel-Zelnick syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Brooke-Spiegler syndrome

CYLD cutaneous syndrome

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

Melnick-Needles syndrome

Melnick-Needles osteodysplasty

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS