Rare Disease Library

Primary syringomyelia

Congenital syringomyelia

Congenital laryngomalacia

Congenital long QT syndrome

Congenital LQTS

Congenital myotonia

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital short QT syndrome

Congenital SQTS

Congenital symblepharon

Congenital syphilis

Mother-to-child transmission of syphilis · MTCT of syphilis

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Familial syringomyelia

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Idiopathic syringomyelia

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

OBSOLETE: Congenital hydromyelia

Secondary syringomyelia

Syringomyelia

Tritanopia

Blue colour blindness · Congenital tritanopia