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"

22 matching diseasesClear search ×

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

ORPHA:280671

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

ORPHA:99736

Benign Samaritan congenital myopathy

ORPHA:324581

Congenital amyoplasia

Amyoplasia congenita

ORPHA:488586

Congenital fiber-type disproportion myopathy

CFTDM

ORPHA:2020

Congenital lethal myopathy, Compton-North type

ORPHA:210163

Congenital megacalycosis

ORPHA:93109

Congenital megaprepuce

Isolated congenital buried penis

ORPHA:696897

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital myopathy

ORPHA:97245

Congenital myopathy with cores

ORPHA:172976

Congenital myopathy with myasthenic-like onset

ORPHA:424107

Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with fast-twitch fiber atrophy

ORPHA:544602

Congenital myopathy, Paradas type

ORPHA:199329

Congenital myotonia

ORPHA:206973

Congenital nemaline myopathy

ORPHA:457074

Congenital tufting enteropathy

Intestinal epithelial dysplasia · IED

ORPHA:92050

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

ORPHA:168572

OBSOLETE: Congenital myopathy with central nuclei

ORPHA:172979

OBSOLETE: Congenital myopathy with vacuoles

ORPHA:172985

Severe congenital nemaline myopathy

ORPHA:171430

Thomsen and Becker disease

Myotonia congenita

ORPHA:614