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 39

SPG39 · Spastic paraplegia due to NTE mutation

ORPHA:139480

Autosomal recessive spastic paraplegia type 57

SPG57 · Spastic paraplegia due to partial TFG deficiency

ORPHA:431329

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

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

ORPHA:685

Kjellin syndrome

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

ORPHA:100996

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

ORPHA:289560

Mutilating hereditary sensory neuropathy with spastic paraplegia

Mutilating HSAN with spastic paraplegia

ORPHA:139578

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG

ORPHA:102012

Spastic paraplegia type 2

SPG2 · Spastic gait type 2

ORPHA:99015

Spastic paraplegia type 7

SPG7

ORPHA:99013

X-linked pure spastic paraplegia

ORPHA:320332

X-linked spastic paraplegia type 16

SPG16

ORPHA:100997

X-linked spastic paraplegia type 34

SPG34

ORPHA:171607