All patient-facing tools are free · No login required to browse
All access tools are free for patients and caregivers
All community tools are free for patients and caregivers
7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Wildervanck syndrome
Cervicooculoacoustic syndrome
Cerebrooculonasal syndrome
Donnai-Barrow syndrome
DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Joubert syndrome with oculorenal defect
Arima syndrome · CORS
Keipert syndrome
Nasodigitoacoustic syndrome
Pelviscapular dysplasia
Cousin syndrome · Familial pelvis-scapular dysplasia
Venous thoracic outlet syndrome
Effort subclavian vein thrombosis · Paget-Schrotter disease