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"

15 matching diseasesClear search ×

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD

ORPHA:75840

Becker muscular dystrophy

BMD · Becker dystrophinopathy

ORPHA:98895

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

ORPHA:610

Congenital muscular dystrophy

CMD · MDC

ORPHA:97242

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

ORPHA:399096

Distal myopathy

Distal muscular dystrophy

ORPHA:599

Duchenne muscular dystrophy

DMD · Duchenne

ORPHA:98896

Emery-Dreifuss muscular dystrophy

EDMD

ORPHA:261

Epidermolysis bullosa simplex with muscular dystrophy

EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

ORPHA:257

Laminin subunit alpha 2-related muscular dystrophy

LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin

ORPHA:207094

Limb-girdle muscular dystrophy

LGMD

ORPHA:263

Oculopharyngeal muscular dystrophy

OPMD

ORPHA:270

Progressive muscular dystrophy

ORPHA:206644

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

ORPHA:609

X-linked scapuloperoneal muscular dystrophy

X-linked SPMD · X-linked scapuloperoneal syndrome

ORPHA:431272