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"

3 matching diseasesClear search ×

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

GBE deficiency, childhood combined hepatic and myopathic form · GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

ORPHA:308684

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

GBE deficiency, childhood neuromuscular form · GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form

ORPHA:308698

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