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 ×

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

ORPHA:685

Autosomal dominant spastic paraplegia type 3

Strümpell disease · Autosomal dominant spastic paraplegia type 3A

ORPHA:100984

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

ORPHA:85414