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"

70 matching diseasesClear search ×

Spastic paraplegia type 2

SPG2 · Spastic gait type 2

ORPHA:99015

Autosomal dominant spastic paraplegia type 29

SPG29

ORPHA:101009

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 dominant spastic paraplegia type 10

SPG10

ORPHA:100991

Autosomal dominant spastic paraplegia type 12

SPG12

ORPHA:100993

Autosomal dominant spastic paraplegia type 13

SPG13

ORPHA:100994

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

ORPHA:100998

Autosomal dominant spastic paraplegia type 19

SPG19

ORPHA:100999

Autosomal dominant spastic paraplegia type 3

Strümpell disease · Autosomal dominant spastic paraplegia type 3A

ORPHA:100984

Autosomal dominant spastic paraplegia type 31

SPG31

ORPHA:101011

Autosomal dominant spastic paraplegia type 36

SPG36

ORPHA:320365

Autosomal dominant spastic paraplegia type 37

SPG37

ORPHA:171612

Autosomal dominant spastic paraplegia type 38

SPG38

ORPHA:171617

Autosomal dominant spastic paraplegia type 4

SPG4

ORPHA:100985

Autosomal dominant spastic paraplegia type 41

SPG41

ORPHA:320355

Autosomal dominant spastic paraplegia type 42

SPG42

ORPHA:171863

Autosomal dominant spastic paraplegia type 6

SPG6

ORPHA:100988

Autosomal dominant spastic paraplegia type 73

SPG73

ORPHA:444099

Autosomal dominant spastic paraplegia type 8

SPG8

ORPHA:100989

Autosomal recessive spastic paraplegia type 11

Nakamura-Osame syndrome · SPG11

ORPHA:2822

Autosomal recessive spastic paraplegia type 14

SPG14

ORPHA:100995

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