Rare Disease Library

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"

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Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

GBE deficiency, progressive hepatic form · GSD due to glycogen branching enzyme deficiency, progressive hepatic form

ORPHA:308621

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Glycogen storage disease type IV, non progressive hepatic form · Glycogenosis type IV, non progressive hepatic form

ORPHA:308638