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"
OBSOLETE: Autosomal dominant focal dystonia, DYT7 type
OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia
Adult-onset dystonia-parkinsonism
Dystonia-parkinsonism, Paisan-Ruiz type · PARK14
Early-onset generalized limb-onset dystonia
Dystonia musculorum deformans · EOTD
Idiopathic ductopenia
Idiopathic adult ductopenia · IAD
Primary dystonia, DYT6 type
DYT6 · Generalized cervical and upper-limb-onset dystonia