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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"
Ferro-cerebro-cutaneous syndrome
Cerebro-cutaneous syndrome with iron overload
Brooke-Spiegler syndrome
CYLD cutaneous syndrome
Neurocutaneous syndrome with epilepsy
Oculocerebrocutaneous syndrome
Delleman syndrome · Delleman-Oorthuys syndrome