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"

116 matching diseasesClear search ×

POMGNT1-related limb-girdle muscular dystrophy R15

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

ORPHA:206564

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

Progressive muscular atrophy

PMA

ORPHA:454706

Proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:70

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy

ORPHA:83330

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

ORPHA:83418

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

ORPHA:83419

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA

ORPHA:83420

Scapuloperoneal spinal muscular atrophy

Kugelberg-Welander disease · Neurogenic scapuloperoneal amyotrophy, New England type

ORPHA:431255

Spectrin-associated autosomal recessive cerebellar ataxia

Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · Autosomal recessive spinocerebellar ataxia type 14

ORPHA:352403

Spinal muscular atrophy with respiratory distress type 2

Diaphragmatic spinal muscular atrophy type 2 · Kugelberg-Welander disease

ORPHA:404521

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome

ORPHA:2590

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

ORPHA:34514

Titin-related limb-girdle muscular dystrophy R10

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

ORPHA:140922

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

X-linked distal hereditary motor neuropathy

X-linked dHMN · X-linked distal spinal muscular atrophy

ORPHA:404538

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX

ORPHA:139557