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 ×

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

ORPHA:800

Adult-onset Steinert myotonic dystrophy

Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1

ORPHA:589830

Childhood-onset Steinert myotonic dystrophy

Childhood-onset Steinert disease · Childhood-onset myotonic dystrophy type 1

ORPHA:589824

Congenital-onset Steinert myotonic dystrophy

Congenital-onset Steinert disease · Congenital-onset myotonic dystrophy type 1

ORPHA:589821

Late-onset Steinert myotonic dystrophy

Late-onset Steinert disease · Late-onset myotonic dystrophy type 1

ORPHA:589833

Myotonic dystrophy

ORPHA:206647

Myotonic dystrophy type 3

ORPHA:54238

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

ORPHA:606

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

ORPHA:273