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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"
Granulomatous arthritis of childhood
Autoinflammatory granulomatosis of childhood · Granulomatous inflammatory arthritis, dermatitis, and uveitis
Glycogen storage disease due to phosphoglycerate mutase deficiency
Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10
Benign paroxysmal tonic upgaze of childhood with ataxia
Ouvrier-Billson syndrome