Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Paramyotonia congenita of Von Eulenburg

Paramyotonia congenita

ORPHA:684

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

ORPHA:99736

Congenital amyoplasia

Amyoplasia congenita

ORPHA:488586

Congenital myotonia

ORPHA:206973

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Pachyonychia congenita

ORPHA:2309

Thomsen and Becker disease

Myotonia congenita

ORPHA:614