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"

6 matching diseasesClear search ×

IFIH1-related hereditary spastic paraplegia

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

ORPHA:689231

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

ORPHA:102013

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

ORPHA:685

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