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"

12 matching diseasesClear search ×

Childhood-onset nemaline myopathy

Mild nemaline myopathy

ORPHA:171439

Adult-onset nemaline myopathy

ORPHA:171442

Amish nemaline myopathy

ORPHA:98902

Congenital nemaline myopathy

ORPHA:457074

Early-onset myopathy with fatal cardiomyopathy

EOMFC · Salih myopathy

ORPHA:289377

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

Intermediate nemaline myopathy

ORPHA:171433

Miyoshi myopathy

ORPHA:45448

Myosin storage myopathy

Hyaline body myopathy

ORPHA:53698

Nemaline myopathy

NEM · NM

ORPHA:607

Severe congenital nemaline myopathy

ORPHA:171430

Typical nemaline myopathy

ORPHA:171436