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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"
Multiple system atrophy, cerebellar type
MSA, cerebellar type · MSA-c
Olivopontocerebellar atrophy-deafness syndrome
Olivopontocerebellar atrophy-hearing loss syndrome
Pontocerebellar hypoplasia type 1
Norman disease · PCH1
Pontocerebellar hypoplasia type 4
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia · Olivopontocerebellar hypoplasia
Spinocerebellar ataxia type 14
SCA14