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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"
Pterin-4 alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia due to DNAJC12 deficiency
Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Hyperphenylalaninemia due to BH4 deficiency
Maternal phenylketonuria syndrome
Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia
Mild hyperphenylalaninemia
Mild HPA · Non-PKU HPA