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