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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"
Mild phenylketonuria
Mild PKU · mPKU
Classic phenylketonuria
Classic PKU · PKU
Infantile Refsum disease
IRD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
Maternal phenylketonuria syndrome
Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia
Mild hyperphenylalaninemia
Mild HPA · Non-PKU HPA
Phenylketonuria
PKU
Tetrahydrobiopterin-responsive phenylketonuria
BH4-responsive phenylketonuria · BH4-responsive PKU