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"

16 matching diseasesClear search ×

Autosomal recessive spastic paraplegia type 24

SPG24

ORPHA:101004

Autosomal dominant spastic paraplegia type 29

SPG29

ORPHA:101009

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 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 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

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