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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"
Classic phenylketonuria
Classic PKU · PKU
Maternal phenylketonuria syndrome
Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia
Mild phenylketonuria
Mild PKU · mPKU
Phenylketonuria
PKU
Tetrahydrobiopterin-responsive phenylketonuria
BH4-responsive phenylketonuria · BH4-responsive PKU
Dihydropteridine reductase deficiency
Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2