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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"
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
ADK hypermethioninemia · Hypermethioninemia encephalopathy due to ADK deficiency
Argininemia
Arginase 1 deficiency · Arginase deficiency
Gyrate atrophy of choroid and retina
HOGA · Hyperornithinemia
Hyper-beta-alaninemia
Hyperalaninemia
Hyperlysinemia
Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency
Hypermethioninemia due to glycine N-methyltransferase deficiency
Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency