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 ×

Familial recurrent peripheral facial palsy

Familial recurrent Bell palsy

ORPHA:2809

PAPA syndrome

FRA · Familial recurrent arthritis

ORPHA:69126

Paroxysmal extreme pain disorder

Familial rectal pain

ORPHA:46348