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"

5 matching diseasesClear search ×

Dracunculiasis

Dracunculosis · Guinea worm disease

ORPHA:231

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

ORPHA:99000

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

ORPHA:2073

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

ORPHA:90020

Wolman disease

ORPHA:75233