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"

96 matching diseasesClear search ×

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

Autosomal spastic paraplegia type 58

SPAX2 · Autosomal spastic ataxia type 2

ORPHA:397946

Autosomal spastic paraplegia type 72

SPG72

ORPHA:401849

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

ORPHA:102013

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

ORPHA:98975

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Autosomal recessive spastic paraplegia type 79

ORPHA:352654

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

HSAN due to TECPR2 mutation · Autosomal recessive spastic paraplegia type 49

ORPHA:320385

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

ORPHA:100996

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2

ORPHA:497757

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

ORPHA:100990

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG

ORPHA:102012

Pure or complex autosomal dominant spastic paraplegia

Pure or complicated autosomal dominant spastic paraplegia

ORPHA:320342

Pure or complex autosomal recessive spastic paraplegia

Pure or complicated autosomal recessive spastic paraplegia

ORPHA:320346

Pure or complex hereditary spastic paraplegia

Pure or complex familial spastic paraplegia · Pure or complicated familial spastic paraplegia

ORPHA:320335

Pure or complex X-linked spastic paraplegia

Pure or complicated X-linked spastic paraplegia

ORPHA:320350

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

ORPHA:171871

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7

ORPHA:1182

X-linked complex spastic paraplegia

Complex X-linked HSP · Complex X-linked SPG

ORPHA:98888

X-linked complicated spastic paraplegia type 1

SPG1

ORPHA:306617