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"

68 matching diseasesClear search ×

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

ORPHA:588

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

ORPHA:168572

OBSOLETE: GMPPB-related congenital muscular dystrophy

OBSOLETE: GMPPB-related CMD

ORPHA:363629

OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy

OBSOLETE: MYH7-related late-onset SPMD · OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome

ORPHA:437572

Oculopharyngeal muscular dystrophy

OPMD

ORPHA:270

Plectin-related limb-girdle muscular dystrophy R17

LGMD2Q · Plectin-related LGMD R17

ORPHA:254361

POGLUT1-related limb-girdle muscular dystrophy R21

LGMD2Z · Autosomal recessive limb-girdle muscular dystrophy type 2Z

ORPHA:480682

POMGNT1-related limb-girdle muscular dystrophy R15

LGMD2O · Autosomal recessive limb-girdle muscular dystrophy type 2O

ORPHA:206564

POMGNT2-related limb-girdle muscular dystrophy R24

POMGNT2-related muscular dystrophy · POMGNT2-related LGMD R24

ORPHA:565899

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

ORPHA:86812

POMT2-related limb-girdle muscular dystrophy R14

LGMD2N · Autosomal recessive limb-girdle muscular dystrophy type 2N

ORPHA:206559

Rigid spine syndrome

Rigid spine congenital muscular dystrophy

ORPHA:97244

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

ORPHA:34514

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

ORPHA:609

Titin-related limb-girdle muscular dystrophy R10

Autosomal recessive limb-girdle muscular dystrophy type 2J · LGMD2J

ORPHA:140922

TNP03-related limb-girdle muscular dystrophy D2

LGMD1F · Autosomal dominant limb-girdle muscular dystrophy type 1F

ORPHA:55595

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y

ORPHA:424261

TRAPPC11-related limb-girdle muscular dystrophy R18

LGMD2S · Autosomal recessive limb-girdle muscular dystrophy type 2S

ORPHA:369840

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

ORPHA:1878

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD

ORPHA:75840