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"

15 matching diseasesClear search ×

Autosomal recessive spastic paraplegia type 53

SPG53

ORPHA:319199

Autosomal dominant spastic paraplegia type 4

SPG4

ORPHA:100985

Autosomal dominant spastic paraplegia type 6

SPG6

ORPHA:100988

Autosomal dominant spastic paraplegia type 8

SPG8

ORPHA:100989

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 spastic paraplegia type 58

SPAX2 · Autosomal spastic ataxia type 2

ORPHA:397946

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

ORPHA:685

Spastic paraplegia type 2

SPG2 · Spastic gait type 2

ORPHA:99015

Spastic paraplegia type 7

SPG7

ORPHA:99013

X-linked complicated spastic paraplegia type 1

SPG1

ORPHA:306617