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