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"
Dystonia 28
DYT28 · KMT2B-related dystonia
Adult-onset dystonia-parkinsonism
Dystonia-parkinsonism, Paisan-Ruiz type · PARK14
Isolated dystonia
Pure dystonia
Mitochondrial DNA-related dystonia
Maternally-inherited mitochondrial dystonia · mtDNA-related dystonia
Rare dystonia
Rare dystonic disorder