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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"
Glycogen storage disease due to muscle beta-enolase deficiency
GSD due to muscle beta-enolase deficiency · GSDXIII
Glycogen storage disease due to glycogen debranching enzyme deficiency
GSDIII · Glycogen storage disease type 3
Glycogen storage disease due to phosphoglucomutase deficiency
GSD due to phosphoglucomutase deficiency · GSD type 14