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"

14 matching diseasesClear search ×

Thomsen and Becker disease

Myotonia congenita

ORPHA:614

Paramyotonia congenita of Von Eulenburg

Paramyotonia congenita

ORPHA:684

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

ORPHA:99736

Aplasia cutis congenita

ORPHA:1114

Congenital amyoplasia

Amyoplasia congenita

ORPHA:488586

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital myopathy

ORPHA:97245

Congenital myotonia

ORPHA:206973

Congenital neutropenia

Constitutional neutropenia

ORPHA:101987

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

ORPHA:280671

Pachyonychia congenita

PC

ORPHA:2309