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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"
Galactokinase deficiency
GALK deficiency · GALK-D
Classic galactosemia
GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency
Galactose epimerase deficiency
Epimerase deficiency galactosemia · GALE deficiency
Galactosemia
Tyrosinemia type 2
Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia