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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"
Dentatorubral pallidoluysian atrophy
DRPLA · Dentatorubropallidoluysian atrophy
Naxos disease
KWWH type I · Keratoderma with woolly hair type I
Neuronal ceroid lipofuscinosis
NCL · NCL disease
Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome