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"

3 matching diseasesClear search ×

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

ORPHA:101003

Short stature-valvular heart disease-characteristic facies syndrome

ORPHA:2868

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

ORPHA:2815