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"

103 matching diseasesClear search ×

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG

ORPHA:102012

Pure or complex autosomal dominant spastic paraplegia

Pure or complicated autosomal dominant spastic paraplegia

ORPHA:320342

Pure or complex autosomal recessive spastic paraplegia

Pure or complicated autosomal recessive spastic paraplegia

ORPHA:320346

Pure or complex hereditary spastic paraplegia

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

ORPHA:320335

Pure or complex X-linked spastic paraplegia

Pure or complicated X-linked spastic paraplegia

ORPHA:320350

X-linked complex spastic paraplegia

Complex X-linked HSP · Complex X-linked SPG

ORPHA:98888

X-linked complicated spastic paraplegia type 1

SPG1

ORPHA:306617