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"

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Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

ORPHA:886

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

ORPHA:85297

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