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"

13 matching diseasesClear search ×

Myosin storage myopathy

Hyaline body myopathy

ORPHA:53698

Amish nemaline myopathy

ORPHA:98902

Brody myopathy

ORPHA:53347

Childhood-onset nemaline myopathy

Mild nemaline myopathy

ORPHA:171439

Early-onset myopathy with fatal cardiomyopathy

EOMFC · Salih myopathy

ORPHA:289377

Fingerprint body myopathy

ORPHA:97232

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

ORPHA:79091

Nemaline myopathy

NEM · NM

ORPHA:607

Reducing body myopathy

ORPHA:97239

Spheroid body myopathy

ORPHA:268129

Typical nemaline myopathy

ORPHA:171436

Zebra body myopathy

ORPHA:97240