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"

4 matching diseasesClear search ×

Synpolydactyly type 1

SD2, Vordingborg type · SD2a

ORPHA:295195

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Mitochondrial HSP60 chaperonopathy

ORPHA:280288

Synpolydactyly type 2

SD2, Debeer type · SD2b

ORPHA:295197

Synpolydactyly type 3

SD2, Malik type · SD2c

ORPHA:295199