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"

2 matching diseasesClear search ×

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

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