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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"
Adams-Oliver syndrome
AOS · Congenital scalp defects with distal limb anomalies
Adult-onset Still disease
AOSD · Wissler-Fanconi syndrome
Familial intraosseous vascular malformation
Hereditary intraosseous vascular malformation · VMOS
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
PSP-AOS · PSP-PNFA