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"

192 matching diseasesClear search ×

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20

ORPHA:101000

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

ORPHA:101001

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

ORPHA:101003

Autosomal recessive spastic paraplegia type 24

SPG24

ORPHA:101004

Autosomal recessive spastic paraplegia type 25

Autosomal recessive spastic paraplegia-disc herniation syndrome · SPG25

ORPHA:101005

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

ORPHA:101006

Autosomal recessive spastic paraplegia type 27

SPG27

ORPHA:101007

Autosomal recessive spastic paraplegia type 28

SPG28

ORPHA:101008

Autosomal recessive spastic paraplegia type 32

SPG32

ORPHA:171622

Autosomal recessive spastic paraplegia type 35

SPG35

ORPHA:171629

Autosomal recessive spastic paraplegia type 39

SPG39 · Spastic paraplegia due to NTE mutation

ORPHA:139480

Autosomal recessive spastic paraplegia type 43

SPG43

ORPHA:320370

Autosomal recessive spastic paraplegia type 44

SPG44

ORPHA:320401

Autosomal recessive spastic paraplegia type 45

Autosomal recessive spastic paraplegia type 65 · SPG45

ORPHA:320396

Autosomal recessive spastic paraplegia type 46

SPG46

ORPHA:320391

Autosomal recessive spastic paraplegia type 48

SPG48

ORPHA:306511

Autosomal recessive spastic paraplegia type 53

SPG53

ORPHA:319199

Autosomal recessive spastic paraplegia type 54

SPG54

ORPHA:320380

Autosomal recessive spastic paraplegia type 55

SPG55

ORPHA:320375

Autosomal recessive spastic paraplegia type 56

SPG56

ORPHA:320411

Autosomal recessive spastic paraplegia type 57

SPG57 · Spastic paraplegia due to partial TFG deficiency

ORPHA:431329

Autosomal recessive spastic paraplegia type 59

SPG59

ORPHA:401795

Autosomal recessive spastic paraplegia type 5A

SPG5A

ORPHA:100986

Autosomal recessive spastic paraplegia type 60

SPG60

ORPHA:401800

Autosomal recessive spastic paraplegia type 61

SPG61

ORPHA:401780

Autosomal recessive spastic paraplegia type 62

SPG62

ORPHA:401785

Autosomal recessive spastic paraplegia type 63

SPG63

ORPHA:401805

Autosomal recessive spastic paraplegia type 64

SPG64

ORPHA:401810

Autosomal recessive spastic paraplegia type 66

SPG66

ORPHA:401815

Autosomal recessive spastic paraplegia type 67

SPG67

ORPHA:401820

Autosomal recessive spastic paraplegia type 68

SPG68

ORPHA:401825

Autosomal recessive spastic paraplegia type 69

SPG69

ORPHA:401830

Autosomal recessive spastic paraplegia type 70

SPG70

ORPHA:401835

Autosomal recessive spastic paraplegia type 71

SPG71

ORPHA:401840

Autosomal recessive spastic paraplegia type 74

SPG74

ORPHA:468661

Autosomal recessive spastic paraplegia type 75

SPG75

ORPHA:459056

Autosomal recessive spastic paraplegia type 76

SPG76

ORPHA:488594

Autosomal recessive spastic paraplegia type 77

SPG77

ORPHA:466722

Autosomal recessive spastic paraplegia type 78

SPG78

ORPHA:513436

Autosomal recessive spastic paraplegia type 82

ORPHA:631073

Autosomal recessive spastic paraplegia type 83

ORPHA:631076

Autosomal recessive spastic paraplegia type 84

ORPHA:631079

Autosomal recessive spastic paraplegia type 85

ORPHA:631082

Autosomal recessive spastic paraplegia type 86

ORPHA:631085

Autosomal recessive spastic paraplegia type 87

ORPHA:631088

Autosomal recessive spastic paraplegia type 9B

AR-SPG9B

ORPHA:447760

Autosomal spastic paraplegia type 18

SPG18

ORPHA:209951

Autosomal spastic paraplegia type 30

SPG30

ORPHA:101010