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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"
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
ROSAH syndrome · Optic nerve edema-splenomegaly syndrome
Syndromic optic nerve hypoplasia