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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"
Acetazolamide-responsive myotonia
ACZ-responsive congenital myotonia · ACZ-responsive myotonia
Dopa-responsive dystonia
HPD with diurnal fluctuation · Hereditary progressive dystonia with diurnal fluctuation
Myoclonus-dystonia syndrome
Alcohol-responsive dystonia · Hereditary essential myoclonus