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 dominant spastic paraplegia type 42

SPG42

ORPHA:171863

Autosomal dominant spastic paraplegia type 4

SPG4

ORPHA:100985

Autosomal dominant spastic paraplegia type 41

SPG41

ORPHA:320355

Autosomal dominant spastic paraplegia type 6

SPG6

ORPHA:100988

Autosomal dominant spastic paraplegia type 8

SPG8

ORPHA:100989

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

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

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

ORPHA:320385

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