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 ×

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

PSP-AOS · PSP-PNFA

ORPHA:240112

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

ORPHA:974

Progressive supranuclear palsy-predominant parkinsonism syndrome

PSP-p · PSP-parkinsonism

ORPHA:240085