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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"
Galactose epimerase deficiency
Epimerase deficiency galactosemia · GALE deficiency
Erythrocyte galactose epimerase deficiency
Erythrocyte GALE deficiency · Erythrocyte GALE-D
Galactokinase deficiency
GALK deficiency · GALK-D
Generalized galactose epimerase deficiency
Generalized GALE deficiency · Generalized GALE-D