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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"
Microcephaly-albinism-digital anomalies syndrome
Castro Gago-Pombo-Novo syndrome
Opsoclonus-myoclonus syndrome
Ataxo-opso-myoclonus syndrome · Dancing eye syndrome
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Nova syndrome
Rombo syndrome