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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"
Propionic acidemia
Ketotic hyperglycinemia · Propionic aciduria
Fumaric aciduria
Fumarase deficiency
Hydroxykynureninuria
Kynureninase deficiency · Xanthurenic aciduria
Malonic aciduria
Malonyl-CoA decarboxylase deficiency · Malonic acidemia
Mevalonic aciduria
Complete mevalonate kinase deficiency · MVA
Organic aciduria
Primary hyperoxaluria type 1
Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency
Urocanic aciduria
Encephalopathy due to urocanase deficiency