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"

7 matching diseasesClear search ×

Wildervanck syndrome

Cervicooculoacoustic syndrome

ORPHA:3456

Cerebrooculonasal syndrome

ORPHA:66625

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

ORPHA:2143

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

ORPHA:2318

Keipert syndrome

Nasodigitoacoustic syndrome

ORPHA:2662

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

ORPHA:93333

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

ORPHA:357131