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"

18 matching diseasesClear search ×

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

ORPHA:609

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

ORPHA:610

Brody myopathy

ORPHA:53347

Cap myopathy

Cap disease

ORPHA:171881

Congenital myopathy

ORPHA:97245

Congenital myopathy with excess of thin filaments

Actin myopathy

ORPHA:98904

Distal myopathy

Distal muscular dystrophy

ORPHA:599

Early-onset myopathy with fatal cardiomyopathy

EOMFC · Salih myopathy

ORPHA:289377

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

ORPHA:602

Hereditary myopathy with early respiratory failure

MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure

ORPHA:178464

Inclusion myopathy

ORPHA:206662

Miyoshi myopathy

ORPHA:45448

Myofibrillar myopathy

MFM

ORPHA:593

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

ORPHA:536516

Myosin storage myopathy

Hyaline body myopathy

ORPHA:53698

Myotilinopathy

Qualitative or quantitative defects of myotilin

ORPHA:209224

Nemaline myopathy

NEM · NM

ORPHA:607

Zebra body myopathy

ORPHA:97240