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"

62 matching diseasesClear search ×

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:1145

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

LGMD2P · Autosomal recessive limb-girdle muscular dystrophy type 2P

ORPHA:280333

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-sarcoglycanopathy · LGMD2D

ORPHA:62

Anoctamin-5-related limb-girdle muscular dystrophy R12

Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD2L

ORPHA:206549

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

ORPHA:209335

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures

ORPHA:1216

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

ORPHA:140465

Autosomal dominant proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:211037

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

ORPHA:140468

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

ORPHA:206580

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

ORPHA:119

Bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:206701

Bulbospinal muscular atrophy of adult

Kugelberg-Welander disease · SMA

ORPHA:206707

Bulbospinal muscular atrophy of childhood

Kugelberg-Welander disease · SMA

ORPHA:206704

Calpain-3-related limb-girdle muscular dystrophy D4

LGMD1I · Limb-girdle muscular dystrophy type D4

ORPHA:565909

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

ORPHA:267

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

ORPHA:219

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

ORPHA:399096

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

ORPHA:53739

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

ORPHA:139518

Distal hereditary motor neuropathy type 2

Distal spinal muscular atrophy type 2 · dHMN2

ORPHA:139525

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

ORPHA:139536

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

ORPHA:139552

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

ORPHA:139547

DNAJB6-related limb-girdle muscular dystrophy D1

LGMD1D · Autosomal dominant limb-girdle muscular dystrophy type 1D

ORPHA:34516

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

ORPHA:268

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive limb-girdle muscular dystrophy type 2I · LGMD2I

ORPHA:34515

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

ORPHA:353

Generalized bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:206710

GMPPB-related limb-girdle muscular dystrophy R19

LGMD2T · Autosomal recessive limb-girdle muscular dystrophy type 2T

ORPHA:363623

HNRNPDL-related limb-girdle muscular dystrophy D3

LGMD1G · Autosomal dominant limb-girdle muscular dystrophy type 1G

ORPHA:55596

ISPD-related limb-girdle muscular dystrophy R20

LGMD2U · Autosomal recessive limb-girdle muscular dystrophy type 2U

ORPHA:352479

Kennedy disease

SBMA · X-linked BSMA

ORPHA:481

Lower motor neuron syndrome with late-adult onset

Spinal muscular atrophy, Jokela type · SMAJ

ORPHA:276435

OBSOLETE: Distal spinal muscular atrophy

ORPHA:206713

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

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

Retinal macular dystrophy type 2

MCDR2

ORPHA:319640

Scapuloperoneal spinal muscular atrophy

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

ORPHA:431255