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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 glycogen branching enzyme deficiency
GSD due to glycogen branching enzyme deficiency · GSD type 4
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
AA amyloidosis
Inflammatory amyloidosis · Reactive amyloidosis
AH amyloidosis
Heavy chain amyloidosis
AL amyloidosis
Light-chain amyloidosis
ALECT2 amyloidosis
Leukocyte chemotactic factor-2 amyloidosis
Amyloidosis