Rare Disease Library

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"

6 matching diseasesClear search ×

Maternal phenylketonuria syndrome

Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia

ORPHA:2209

Hyper-beta-alaninemia

Hyperalaninemia

ORPHA:309147

Hyperphenylalaninemia due to DNAJC12 deficiency

Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia

ORPHA:508523

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Hyperphenylalaninemia due to BH4 deficiency

ORPHA:238583

Mild hyperphenylalaninemia

Mild HPA · Non-PKU HPA

ORPHA:79651

Pterin-4 alpha-carbinolamine dehydratase deficiency

Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

ORPHA:1578