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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"
DK1-CDG
Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
G6P deficiency type 1a · GSD type 1a