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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"
Overlap myositis
Non-specific myositis · Adult-onset overlap myositis
Dermatomyositis
Adult dermatomyositis
Juvenile overlap myositis
Ocular cystinosis
Adult-onset cystinosis · Non-nephropathic cystinosis
Primary lateral sclerosis
Adult-onset PLS · Adult-onset primary lateral sclerosis
PUM1-related cerebellar ataxia
Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47