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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"
Fabry disease
Alpha-galactosidase A deficiency · Anderson-Fabry disease
Addison disease
Primary Addison disease · Autoimmune adrenalitis
Alexander disease
AxD
Chylomicron retention disease
Anderson disease · CMRD
Farber disease
Acid ceramidase deficiency · Farber lipogranulomatosis
Glycogen storage disease due to glycogen branching enzyme deficiency
GSD due to glycogen branching enzyme deficiency · GSD type 4
Wilson disease
Hepatolenticular degeneration