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"

9 matching diseasesClear search ×

Muscular lipidosis

Lipid storage myopathy

ORPHA:206953

Autosomal dominant myosin storage myopathy

MSMA

ORPHA:636965

Autosomal recessive myosin storage myopathy

MSMB

ORPHA:636970

Early-onset myopathy with fatal cardiomyopathy

EOMFC · Salih myopathy

ORPHA:289377

Lipid storage disease

ORPHA:79204

Muscular glycogenosis

Glycogen storage myopathy

ORPHA:206959

Myosin storage myopathy

Hyaline body myopathy

ORPHA:53698

Neutral lipid storage disease

Lipidosis with triglyceride storage disease

ORPHA:165

Neutral lipid storage disease with myopathy

Neutral lipid storage disease type M · NLSDM

ORPHA:98908