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"

12 matching diseasesClear search ×

Kjellin syndrome

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

ORPHA:100996

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

ORPHA:102013

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

ORPHA:685

IFIH1-related hereditary spastic paraplegia

Interferon induced with helicase C domain 1-related hereditary spastic paraplegia

ORPHA:689231

Infantile-onset ascending hereditary spastic paralysis

IAHSP

ORPHA:293168

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG

ORPHA:102012

Pure or complex hereditary spastic paraplegia

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

ORPHA:320335

RNASEH2B-related hereditary spastic paraplegia

Ribonuclease H2 subunit B-related hereditary spastic paraplegia

ORPHA:689234

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

ORPHA:2815

Spastic paraplegia type 2

SPG2 · Spastic gait type 2

ORPHA:99015

Spastic paraplegia type 7

SPG7

ORPHA:99013

Tropical spastic paraparesis

HAM/TSP · HTLV-1-associated myelopathy/tropical spastic paraparesis

ORPHA:289326