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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"
Machado-Joseph disease type 1
SCA3, Joseph type · Spinocerebellar ataxia type 3, Joseph type
Machado-Joseph disease type 2
SCA3, Thomas type · Spinocerebellar ataxia, Thomas type
Machado-Joseph disease type 3
SCA3, Machado type · Spinocerebellar ataxia type 3, Machado type