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"
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Anti-IgLON5 syndrome · Anti-IgLON5 disease
Chylomicron retention disease
Anderson disease · CMRD
CLN5 disease
Neuronal ceroid lipofuscinosis type 5 · NCL5
Glycogen storage disease due to glycogen branching enzyme deficiency
GSD due to glycogen branching enzyme deficiency · GSD type 4
Invasive non-typhoidal salmonellosis
Invasive non-typhoidal salmonella disease · iNTS disease