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"

6 matching diseasesClear search ×

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

ORPHA:3200

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

ORPHA:352712

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

ORPHA:261112

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

ORPHA:324977

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia

ORPHA:60039

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

Stoll-Kieny-Dott syndrome

ORPHA:3201